Review Article
Genomic Medicine
Alan E. Guttmacher, M.D., Editor, Francis S. Collins, M.D., Ph.D., Editor
Genomic Medicine — A Primer
N Engl J Med 2002; 347:1512-1520November 7, 2002DOI: 10.1056/NEJMra012240
- Article
Humans have known for millennia that heredity affects health.1 However, Mendel's seminal contribution to the elucidation of the mechanisms by which heredity affects phenotype occurred less than 150 years ago, and Garrod began applying this knowledge to human health only at the start of the past century. For most of the 20th century, many medical practitioners viewed genetics as an esoteric academic specialty; that view is now dangerously outdated.
The Advent of Genomic Medicine
The recent completion of the draft sequence of the human genome2,3 and related developments have increased interest in genetics, but confusion remains among health professionals and the public about the role of genetic information in medical practice. Inaccurate beliefs about genetics persist, including the view that in the past it had no effect on the practice of medicine and that its influence today is pervasive. In fact, for decades knowledge of genetics has had a large role in the health care of a few patients and a small role in the health care of many. We have recently entered a transition period in which specific genetic knowledge is becoming critical to the delivery of effective health care for everyone.
If genetics has been misunderstood, genomics is even more mysterious — what, exactly, is the difference? Genetics is the study of single genes and their effects. “Genomics,”4 a term coined only 15 years ago, is the study not just of single genes, but of the functions and interactions of all the genes in the genome. Genomics has a broader and more ambitious reach than does genetics. The science of genomics rests on direct experimental access to the entire genome and applies to common conditions, such as breast cancer5 and colorectal cancer,6 human immunodeficiency virus (HIV) infection,7 tuberculosis,8 Parkinson's disease,9 and Alzheimer's disease.10 These common disorders are also all due to the interactions of multiple genes and environmental factors. They are thus known as multifactorial disorders. Genetic variations in these disorders may have a protective or a pathologic role in the expression of diseases.
The role of genomics in health care is in part highlighted by the decreasing effect of certain environmental factors, such as infectious agents, on the burden of disease. Genomics also contributes to the understanding of such important infectious diseases as the acquired immunodeficiency syndrome (AIDS)7 and tuberculosis.8
The following two case vignettes illustrate how knowledge of genomics may lead to better management of common medical conditions.
Thirty-four-year-old Kathleen becomes pregnant and sees a new physician for her first prenatal visit. Her medical history is remarkable for an episode of deep venous thrombosis five years earlier while she was taking oral contraceptives; her mother had had deep venous thrombosis when pregnant with Kathleen. Her physician suspects that Kathleen has a hereditary thrombophilia and obtains blood tests to screen for a genetic predisposition to thrombosis. Kathleen proves to be among the approximately 4 percent of Americans who are heterozygous for a mutation in factor V known as factor V Leiden that increases the risk of thrombotic events. On the basis of this knowledge and her history of possibly estrogen-related thromboembolism, she is treated with prophylactic subcutaneous heparin for the balance of her pregnancy. She remains asymptomatic and delivers a healthy, term infant.
Four-year-old John has acute lymphoblastic leukemia and tolerates induction and consolidation chemotherapy well, with minimal side effects. As a key part of his maintenance-treatment protocol, he begins to receive oral mercaptopurine daily, but because a genetic test shows that John is homozygous for a mutation in the gene that encodes thiopurine S-methyltransferase, an enzyme that inactivates mercaptopurine, he receives a greatly reduced dose. Only a few years ago, about 1 in 300 patients had serious, sometimes lethal, hematopoietic adverse effects during mercaptopurine therapy. Although John is in this at-risk minority, a simple genetic test, which is now routine for patients beginning mercaptopurine therapy, alerts his physicians to this genetic predisposition. They reduce his dose of mercaptopurine and carefully monitor his blood levels, ensuring that the drug levels remain therapeutic, rather than toxic. John subsequently has an uneventful several-year maintenance period and achieves complete remission.
The Human Genome
These are two examples of genomic medicine, the application of our rapidly expanding knowledge of the human genome (Figure 1Figure 1
A Depiction of Chromosome 16 Based on the Determination of Its Actual Sequence by the Human Genome Project.) to medical practice. Much is known, but much remains mysterious. We know that less than 2 percent of the human genome codes for proteins, while over 50 percent represents repeat sequences of several types, whose function is less well understood. These stretches of repetitive sequences, sometimes wrongly dismissed as “junk DNA,” constitute an informative historical record of evolutionary biology, provide a rich source of information for population genetics and medical genetics, and by introducing changes into coding regions, are active agents for change within the genome.2 A draft sequence of the human genome was announced in 2000, and by September 2002 over 90 percent was in final form — that is, there were no gaps and the data were greater than 99.99 percent accurate. The entire 3.1 gigabases of the DNA sequence should essentially be complete (except for the centromeres and rare unclonable segments) by the spring of 2003. Even with this knowledge in hand, however, we still do not know precisely how many genes the genome contains. Current data indicate that the human genome includes approximately 30,000 to 35,000 genes2 — a number that is substantially smaller than was previously thought. Only about half these genes have recognizable motifs, or DNA-sequence patterns, that suggest possible functions. Mutations known to cause disease have been identified in approximately 1000 genes. However, it is likely that nearly all human genes are capable of causing disease if they are altered substantially. Whereas it was once dogma that one gene makes one protein, it now appears that, through the mechanism of alternative splicing12 (Figure 2Figure 2
Alternative Splicing.), more than 100,000 proteins can be derived from these 30,000 to 35,000 genes.2 In addition to alternative splicing, a number of “epigenetic” phenomena, such as methylation and histone modification, can alter the effect of a gene. Furthermore, a complex array of molecular signals allows specific genes to be “turned on” (expressed) or “turned off” in specific tissues and at specific times.
Genes are distributed unevenly across the human genome (Figure 1). Certain chromosomes, particularly 17, 19, and 22, are relatively gene dense as compared with others, such as 4, 8, 13, 18, and Y.3 Moreover, gene density varies within each chromosome, being highest in areas rich in the bases cytosine and guanine, rather than adenine and thymine.2,3 Chromosomes 13, 18, and 21, the three autosomes with the fewest genes, are also the three for which the occurrence of trisomy (i.e., three copies of a chromosome) is compatible with viability.
Not all genes reside on nuclear chromosomes; several dozen involved with energy metabolism are on the mitochondrial chromosome.13 Since ova are rich in mitochondria and sperm are not, mitochondrial DNA is usually inherited from the mother. Therefore, mitochondrial genes — and diseases due to DNA-sequence variants in them — are transmitted in a matrilineal pattern that is distinctly different from the pattern of inheritance of nuclear genes.
Monogenic Conditions
Over the course of the 20th century, a combination of theoretical insights, basic-science research, and clinical observation elucidated the inheritance of single-gene, or monogenic, disorders (also known as mendelian disorders, since they are transmitted in a manner consonant with Mendel's laws of inheritance). Modes of inheritance have been established for thousands of conditions caused by mutations in single genes; these have been catalogued in a textbook11 and, more recently, in an online compendium14 known as Mendelian Inheritance in Man (OMIM). For nearly 100 years, autosomal dominant, autosomal recessive, and X-linked modes of inheritance have been understood and known to cause human disease. In the past few decades, other mechanisms of monogenic inheritance have been described. These include mitochondrial inheritance,13 imprinting (a mechanism by which the effects of certain genes depend on whether they are inherited through the mother or through the father),15 uniparental disomy (the occasional situation in which both members of 1 pair of a person's 23 pairs of chromosomes derive from one parent),16 and expanding trinucleotide repeats (a phenomenon in which a sequence of three base pairs that is normally repeated a number of times in a row in the genome becomes repeated by more than the normal number of times, sometimes causing disease).17
Most single-gene conditions are uncommon. Even the commonest, such as hereditary hemochromatosis (approximate incidence, 1 in 300 persons), cystic fibrosis (approximate incidence, 1 in 3000), alpha1-antitrypsin deficiency (approximate incidence, 1 in 1700), or neurofibromatosis (approximate incidence, 1 in 3000), affect no more than 1 in several hundred people in the United States. However, the total effect of monogenic conditions is substantial, from both the individual patient's and public health perspectives, and increased understanding of genetics has already begun to improve the health of some patients with such conditions. The delineation of the mechanisms by which genetic factors cause monogenic disorders has provided important information about basic pathophysiological processes that underlie related disorders that occur with far greater frequency than do these genetic disorders. For instance, insights regarding familial hypercholesterolemia, a genetic disorder that affects only 1 of every 500 people in the United States, were instrumental to understanding the pathophysiology of atherosclerosis, which affects a large fraction of the population, and the development of the statin drugs, which are among the most frequently prescribed medications.18
Types of Mutation
There are a number of ways to categorize mutations. One is according to the causative mechanism, whereas another is according to their functional effect. When classified according to the mechanism, point mutations — that is, a change in a single DNA base in the sequence — are the most common. There are many types of point mutations. One type is a missense mutation (Figure 3Figure 3
Examples of Point Mutations.), a substitution that leads to an alternative amino acid, because of the way in which it changes the three-base sequence, or codon, that codes for an amino acid. Nonsense mutations (Figure 3) are a more dramatically deleterious type of point mutation that change the codon to a “stop” codon, a codon that causes the termination of the protein instead of producing an amino acid. Another type of mutation is the frame-shift mutation (Figure 3), which changes the reading frame of the gene downstream from it, often leading to a premature stop codon.In terms of functional effect, rather than mechanism, many variants in the human-genome sequence have no phenotypic effect. Among these are silent mutations (Figure 3), which replace one base with another, so that the resultant codon still codes for the same amino acid. Also, mutations may not change the phenotype if the altered codon substitutes one amino acid for another that produces little change in the function of the protein or proteins that the gene encodes. These are referred to as “conservative mutations” (Figure 3). Nonconservative mutations (Figure 3) replace an amino acid with a very different one and are more likely to affect the phenotype.
Although mutations can cause disease by a variety of means, the most common is loss of function. Loss-of-function mutations alter the phenotype by decreasing the quantity or the functional activity of a protein. For instance, mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene on the X chromosome decrease the functional activity of this enzyme, leading to acute hemolytic anemia if a male (who would, of course, have only one copy of the X chromosome) with the mutation is exposed to certain drugs, including sulfonamides, primaquine, and nitrofurantoins. Since genes do not exist just to handle pharmacologic agents, variants that cause a more severe deficiency of glucose-6-phosphate dehydrogenase also lead to hemolytic anemia when affected males ingest fava beans (favism), since this enzyme is also important in the degradation of a component of the beans.19
Some mutations cause disease through a gain of function, whereby the protein takes on some new, toxic function. Expanding exonic CAG trinucleotide repeats that cause disorders including Huntington's disease and spinocerebellar ataxia appear to lead to neuropathologic abnormalities by producing proteins that function abnormally because of expanded polyglutamine tracts (CAG codes for the amino acid glutamine).20 Such gain-of-function mutations are often dominantly inherited, since a single copy of the mutant gene can alter function.
One might assume that mutations in the approximately 98.5 percent of the genome that does not code for proteins do not affect the phenotype. Indeed, most do not. But others are regulatory mutations that may ultimately prove as important in the etiologic process of common diseases as the coding region variants. Regulatory mutations act by altering the expression of a gene. For instance, a regulatory mutation might lead to the loss of expression of a gene, to unexpected expression in a tissue in which it is usually silent, or to a change in the time at which it is expressed. Examples of regulatory mutations associated with disease are those in the flanking region of the FMR1 gene (causing fragile X syndrome),21 the insulin gene flanking region (increasing the risk of type 1 diabetes mellitus),22 a regulatory site of the type I collagen gene (increasing the risk of osteoporosis),23 and an intronic regulatory site of the calpain-10 gene (increasing the risk of type 2 diabetes mellitus).24
Mutations can also decrease the risk of a disease. One example of this is a 32-bp deletion (a frame shift) in a chemokine receptor gene, CCR5. Persons who are homozygous for this deletion prove almost completely resistant to infection with HIV type 1, and those who are heterozygous for the deletion have slower progression from infection to AIDS. These effects arise because CCR5 is an important part of the mechanism by which HIV enters the cell.25
Genes in Common Disease
The study of genomics will most likely make its greatest contribution to health by revealing mechanisms of common, complex diseases, such as hypertension, diabetes, and asthma. So far, most genes involved in common diseases have been identified by virtue of their high penetrance — that is, the mutations lead to disease in a fairly large proportion of people who have them. Examples include mutations in BRCA1 and BRCA2 (increasing the risk of breast and ovarian cancer),26 HNPCC (increasing the risk of hereditary nonpolyposis colorectal cancer),6 MODY 1, MODY 2, and MODY 3 (increasing the risk of diabetes),27 and the gene for α-synuclein (causing Parkinson's disease).9 One can think of these as near-mendelian subgroups of disease within a larger group of affected persons. If a person has such a mutation, the likelihood of disease is great. However, each of these highly penetrant mutations associated with common disease has a prevalence in the general population of only one in several hundred to several thousand people.
From a public health perspective, genes with mutations that are less highly penetrant but much more prevalent have a greater effect on the population than genes that are highly penetrant but uncommon. Such mutations have been reported in genes such as APC (which increases the risk of colorectal cancer)28 and factor V Leiden (which increases the risk of thrombosis).29
An example of the relative contributions of rare, highly penetrant mutations as opposed to common, less penetrant ones is seen in Alzheimer's disease. Rare mutations in presenilin 1, presenilin 2, or the β-amyloid precursor protein gene are highly penetrant causes of early-onset Alzheimer's disease; indeed, Alzheimer's disease develops by the age of 60 years in most people who are heterozygous for a mutation in one of these genes.30 However, because so few people carry a mutation in any of these genes, these mutations play a part in fewer than 1 percent of cases of Alzheimer's disease.31 In contrast, the apolipoprotein E ε4 allele also increases the risk of late-onset Alzheimer's disease (and atherosclerosis32), but more subtly. One representative Finnish study found that Alzheimer's disease develops during the mid-70s in approximately 8 percent of persons who are heterozygous for the ε4 allele and 21 percent of those who are homozygous for it, as compared with 3 percent of those with no ε4 allele.33 Nonetheless, because approximately 26 percent of the U.S. population is heterozygous and 2 percent is homozygous34 for the apolipoprotein E ε4 allele, this genetic factor has a role in many more cases of Alzheimer's disease than do the mutations in the genes for presenilin 1, presenilin 2, and β-amyloid precursor protein combined.
Variation in the Human Genome
One characteristic of the human genome with medical and social relevance is that, on average, two unrelated persons share over 99.9 percent of their DNA sequences.3 However, given the more than 3 billion base pairs that constitute the human genome, this also means that the DNA sequences of two unrelated humans vary at millions of bases. Since a person's genotype represents the blending of parental genotypes, we are each thus heterozygous at about 3 million bases. Many efforts are currently under way, in both the academic and commercial sectors, to catalogue these variants, commonly referred to as “single-nucleotide polymorphisms” (SNPs), and to correlate these specific genotypic variations with specific phenotypic variations relevant to health.
Some SNP–phenotype correlations occur as a direct result of the influence of the SNP on health. More commonly, however, the SNP is merely a marker of biologic diversity that happens to correlate with health because of its proximity to the genetic factor that is actually the cause. In this sense, the term “proximity” is only a rough measure of physical closeness; instead, it connotes that, as genetic material has passed through 5000 generations from our common African ancestral pool, recombination between the SNP and the actual genetic factor has occurred only rarely. In genetic terms, the SNP and the actual genetic factor are said to be in linkage disequilibrium (Figure 4Figure 4
Example of Linkage Disequilibrium.).An extension of the current efforts to catalogue SNPs and correlate them to phenotype are efforts to map and use haplotypes. Whereas a SNP represents a single-nucleotide variant, a haplotype represents a considerably longer sequence of nucleotides (averaging about 25,000), as well as any variants, that tend to be inherited together. SNPs and haplotypes will be the key to the association studies (i.e., studies of affected persons and control subjects) necessary to identify the genetic factors in complex, common diseases, just as family studies have been important to the identification of the genes involved in monogenic conditions.35,36 Also, at least until whole-genome sequencing of individual patients becomes feasible clinically, the identification of SNPs and haplotypes will prove instrumental in efforts to use genomic medicine to individualize health care.
Conclusions
Except for monozygotic twins, each person's genome is unique. All physicians will soon need to understand the concept of genetic variability, its interactions with the environment, and its implications for patient care. With the sequencing of the human genome only months from its finish, the practice of medicine has now entered an era in which the individual patient's genome will help determine the optimal approach to care, whether it is preventive, diagnostic, or therapeutic. Genomics, which has quickly emerged as the central basic science of biomedical research, is poised to take center stage in clinical medicine as well.
Source Information
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.
Address reprint requests to Dr. Guttmacher at Bldg. 31, Rm. 4B09, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-2152, or at guttmach@mail.nih.gov.
- References
References
1
Adams FL. The genuine works of Hippocrates. Vol. 2. New York: William Wood, 1886:338.
2
Lander ES ,Linton LM ,Birren B , et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921[Erratum, Nature 2001;411:720, 412:565.]
CrossRef | Web of Science | Medline3
Venter JC ,Adams MD ,Myers EW , et al. The sequence of the human genome. Science 2001;291:1304-1351[Erratum, Science 2001;292:1838.]
CrossRef | Web of Science | Medline4
McKusick VA ,Ruddle FH . A new discipline, a new name, a new journal. Genomics 1987;1:1-2
CrossRef5
Armstrong K ,Eisen A ,Weber B . Assessing the risk of breast cancer. N Engl J Med 2000;342:564-571
Full Text | Web of Science | Medline6
Lynch HT . Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet 1999;86:130-135
CrossRef | Medline7
Michael NL . Host genetic influences on HIV-1 pathogenesis. Curr Opin Immunol 1999;11:466-474
CrossRef | Web of Science | Medline8
Small PM ,Fujiwara PI . Management of tuberculosis in the United States. N Engl J Med 2001;345:189-200
Full Text | Web of Science | Medline9
Mouradian MM . Recent advances in the genetics and pathogenesis of Parkinson disease. Neurology 2002;58:179-185
CrossRef | Web of Science | Medline10
St George-Hyslop PH . Molecular genetics of Alzheimer disease. Semin Neurol 1999;19:371-383
CrossRef | Web of Science | Medline11
McKusick VA. Mendelian inheritance in man: catalogs of human genes and genetic disorders. 12th ed. Baltimore: Johns Hopkins University Press, 1998.
12
Graveley BR . Alternative splicing: increased diversity in the proteomic world. Trends Genet 2001;17:100-107
CrossRef | Web of Science | Medline13
Wallace DC . Mitochondrial diseases in man and mouse. Science 1999;283:1482-1488
CrossRef | Web of Science | Medline14
Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, 2000. (Accessed October 15, 2002, at http://www.ncbi.nlm.nih.gov/omim/.)
15
Reik W ,Walter J . Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001;2:21-32
CrossRef | Web of Science | Medline16
Robinson WP . Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000;22:452-459
CrossRef | Web of Science | Medline17
Sinden RR . Biological implications of the DNA structures associated with disease-causing triplet repeats. Am J Hum Genet 1999;64:346-353
CrossRef | Web of Science | Medline18
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 2. New York: McGraw-Hill, 2001:2863-913.
19
Luzzatto L, Mehta A, Vulliamy T. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 3. New York: McGraw-Hill, 2001:4517-53.
20
Goldberg YP ,Nicholson DW ,Rasper DM , et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 1996;13:442-449
CrossRef | Web of Science | Medline21
Jin P ,Warren ST . Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000;9:901-908
CrossRef | Web of Science | Medline22
Todd JA . From genome to aetiology in a multifactorial disease, type 1 diabetes. Bioessays 1999;21:164-174
CrossRef | Web of Science | Medline23
Grant SFA ,Reid DM ,Blake G ,Herd R ,Fogelman I ,Ralston SH . Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene. Nat Genet 1996;14:203-205
CrossRef | Web of Science | Medline24
Horikawa Y ,Oda N ,Cox NJ , et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000;26:163-175[Erratum, Nat Genet 2000;26:502.]
CrossRef | Web of Science | Medline25
Dean M ,Carrington M ,Winkler C , et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 1996;273:1856-1862[Erratum, 1996;274:1069.]
CrossRef | Web of Science | Medline26
Nathanson KN ,Wooster R ,Weber BL . Breast cancer genetics: what we know and what we need. Nat Med 2001;7:552-556[Erratum, Nat Med 2001;7:749.]
CrossRef | Web of Science | Medline27
Froguel P ,Velho G . Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 1999;10:142-146
CrossRef | Web of Science | Medline28
Fearnhead NS ,Britton MP ,Bodmer WF . The ABC of APC. Hum Mol Genet 2001;10:721-733
CrossRef | Web of Science | Medline29
Major DA ,Sane DC ,Herrington DM . Cardiovascular implications of the factor V Leiden mutation. Am Heart J 2000;140:189-195
CrossRef | Web of Science | Medline30
Campion D ,Dumanchin C ,Hannequin D , et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999;65:664-670
CrossRef | Web of Science | Medline31
Roses AD . Alzheimer diseases: a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases. Am J Med Genet 1998;81:49-57
CrossRef | Web of Science | Medline32
Curtiss LK ,Boisvert WA . Apolipoprotein E and atherosclerosis. Curr Opin Lipidol 2000;11:243-251
CrossRef | Web of Science | Medline33
Kuusisto J ,Koivisto K ,Kervinen K , et al. Association of apolipoprotein E phenotypes with late onset Alzheimer's disease: population based study. BMJ 1994;309:636-638
CrossRef | Web of Science | Medline34
Roses AD . Apolipoprotein E alleles as risk factors in Alzheimer's disease. Annu Rev Med 1996;47:387-400
CrossRef | Web of Science | Medline35
Reich DE ,Cargill M ,Bolk S , et al. Linkage disequilibrium in the human genome. Nature 2001;411:199-204
CrossRef | Web of Science | Medline36
Goldstein DB ,Weale ME . Population genetics: linkage disequilibrium holds the key. Curr Biol 2001;11:R576-R579
CrossRef | Web of Science | Medline
- Citing Articles (207)
Citing Articles
1
A. van de Winkel, R. Massl, E. J. Kuipers, L. J. W. van der Laan, M. P. Peppelenbosch. (2013) Digestive Disease Week 2011: highlights of clinical and preclinical research on Barrett's esophagus and associated esophageal adenocarcinoma. Diseases of the Esophagus 26:2, 130-140
CrossRef2
Teri A. Manolio, Rex L. Chisholm, Brad Ozenberger, Dan M. Roden, Marc S. Williams, Richard Wilson, David Bick, Erwin P. Bottinger, Murray H. Brilliant, Charis Eng, Kelly A. Frazer, Bruce Korf, David H. Ledbetter, James R. Lupski, Clay Marsh, David Mrazek, Michael F. Murray, Peter H. O’Donnell, Daniel J. Rader, Mary V. Relling, Alan R. Shuldiner, David Valle, Richard Weinshilboum, Eric D. Green, Geoffrey S. Ginsburg. (2013) Implementing genomic medicine in the clinic: the future is here. Genetics in Medicine
CrossRef3
Barry S. Coller. A Brief History of Ideas About Platelets in Health and Disease. In: Platelets. Elsevier, 2013:xix-xliv.
CrossRef4
Samir B. Damani, Eric J. Topol. Coronary Artery Disease and Myocardial Infarction. In: Genomic and Personalized Medicine. Elsevier, 2013:516-529.
CrossRef5
Katherine Chadwell. (2013) Clinical Practice on the Horizon. Clinical Nurse Specialist 27:1, 36-43
CrossRef6
Claude Lenfant. (2013) Prospects of personalized medicine in cardiovascular diseases. Metabolism 62, S6-S10
CrossRef7
Siobhan M Dolan, Inge Christiaens. (2013) Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist. BMC Pregnancy and Childbirth 13:Suppl 1, S4
CrossRef8
John B. Korman, David E. Fisher. (2013) Developing melanoma therapeutics: overview and update. Wiley Interdisciplinary Reviews: Systems Biology and Medicinen/a-n/a
CrossRef9
Christoph I. Lee, Lawrence W. Bassett, Mei Leng, Sally L. Maliski, Bryan B. Pezeshki, Colin J. Wells, Carol M. Mangione, Arash Naeim. (2012) Patients’ willingness to participate in a breast cancer biobank at screening mammogram. Breast Cancer Research and Treatment 136:3, 899-906
CrossRef10
P. Cardinal-Fernández, A. Ferruelo, A. Martín-Pellicer, N. Nin, A. Esteban, J.A. Lorente. (2012) Genetic determinants of acute renal damage risk and prognosis: A systematic review. Medicina Intensiva (English Edition) 36:9, 626-633
CrossRef11
S. Giampaoli, G. Chillemi, F. Valeriani, D. Lazzaro, M. Borro, G. Gentile, M. Simmaco, G. Zanni, A. Berti, V. Romano Spica. (2012) The SNPs in the human genetic blueprint era. New Biotechnology
CrossRef12
Haiying Wang, John Jiang, Bianca Mostert, Anieta Sieuwerts, John W.M. Martens, Stefan Sleijfer, John A. Foekens, Yixin Wang. (2012) Allele-Specific, Non-extendable Primer Blocker PCR (AS-NEPB-PCR) for DNA Mutation Detection in Cancer. The Journal of Molecular Diagnostics
CrossRef13
, Carol A. Christianson, Karen Potter Powell, Susan Estabrooks Hahn, Susan H. Blanton, Jessica Bogacik, Vincent C. Henrich. (2012) The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers. Journal of Genetic Counseling 21:5, 652-661
CrossRef14
Jessica T. DeFrank, Lisa A. Carey, Noel T. Brewer. (2012) Understanding how breast cancer patients use risk information from genomic tests. Journal of Behavioral Medicine
CrossRef15
Kathleen T. Hickey, Robert R. Sciacca, Mary S. McCarthy. (2012) Descriptive survey of Summer Genetics Institute nurse graduates in the USA. Nursing & Health Sciencesno-no
CrossRef16
Heather Skirton, Leigh Jackson, Lesley Goldsmith, Anita O’Connor. (2012) Genomic medicine: what are the challenges for the National Health Service?. Personalized Medicine 9:5, 539-545
CrossRef17
P. Boffetta, D. M. Winn, J. P. Ioannidis, D. C. Thomas, J. Little, G. D. Smith, V. J. Cogliano, S. S. Hecht, D. Seminara, P. Vineis, M. J. Khoury. (2012) Recommendations and proposed guidelines for assessing the cumulative evidence on joint effects of genes and environments on cancer occurrence in humans. International Journal of Epidemiology 41:3, 686-704
CrossRef18
Amilcar Ezequiel Rizzo, Howard I. Maibach. (2012) Personalizing dermatology: The future of genomic expression profiling to individualize dermatologic therapy. Journal of Dermatological Treatment 23:3, 161-167
CrossRef19
Xavier Delannay, Graham McLaren, Jean-Marcel Ribaut. (2012) Fostering molecular breeding in developing countries. Molecular Breeding 29:4, 857-873
CrossRef20
Nagla Gasmelseed, Afrah Awad Elsir, Pasquale DeBlasio, Ida Biunno. (2012) Sub-Saharan centralized biorepository for genetic and genomic research. Science of The Total Environment 423, 210-213
CrossRef21
P. Cardinal-Fernández, A. Ferruelo, A. Martín-Pellicer, N. Nin, A. Esteban, J.A. Lorente. (2012) Determinantes genéticos del riesgo y pronóstico del daño renal agudo: una revisión sistemática. Medicina Intensiva
CrossRef22
Jeffrey Comer, Aleksei Aksimentiev. (2012) Predicting the DNA Sequence Dependence of Nanopore Ion Current Using Atomic-Resolution Brownian Dynamics. The Journal of Physical Chemistry C 116:5, 3376-3393
CrossRef23
Jean F. Jenkins, Kathleen A. Calzone. (2012) Are Nursing Faculty Ready to Integrate Genomic Content Into Curricula?. Nurse Educator 37:1, 25-29
CrossRef24
Mark L. Gonzalgo, Alan Keith Meeker. Molecular Genetics and Cancer Biology. In: Campbell-Walsh Urology. Elsevier, 2012:530-567.e16.
CrossRef25
H P Rang, M M Dale, J M Ritter, R J Flower, G Henderson. Biopharmaceuticals and gene therapy. In: Rang & Dale's Pharmacology. Elsevier, 2012:715-725.
CrossRef26
David J. Tester, Michael J. Ackerman. Genomics and Principles of Clinical Genetics. In: Electrophysiological Disorders of the Heart. Elsevier, 2012:73-84.
CrossRef27
Shweta U. Dhar, Raye L. Alford, Elizabeth A. Nelson, Lorraine Potocki. (2012) Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genetics in Medicine 14:1, 163-167
CrossRef28
Moo-Sik Lee, Andreas J. Flammer, Lilach O. Lerman, Amir Lerman. (2012) Personalized Medicine in Cardiovascular Diseases. Korean Circulation Journal 42:9, 583
CrossRef29
Arkadiusz Z. Dudek, Steven F. Powell. Oncology. In: Pharmaceutical Sciences Encyclopedia. John Wiley & Sons, Inc., 2011.
CrossRef30
Kathleen A. Calzone, Bonnie Jerome-D’Emilia, Jean Jenkins, Constance Goldgar, Michael Rackover, John Jackson, Ye Chen, John Voss, W. Gregory Feero. (2011) Establishment of the Genetic/Genomic Competency Center for Education. Journal of Nursing Scholarship 43:4, 351-358
CrossRef31
Alison Harvey. (2011) From lab to lifestyle: translating genomics into healthcare practices. New Genetics and Society 30:4, 309-327
CrossRef32
Rogan Carr, Jeffrey Comer, Aleksei Aksimentiev. Modeling the Interface between Biological and SyntheticComponents in Hybrid Nanosystems. In: Simulations in Nanobiotechnology. CRC Press, 2011:43-60.
CrossRef33
Isaac S. Chan, Geoffrey S. Ginsburg. (2011) Personalized Medicine: Progress and Promise. Annual Review of Genomics and Human Genetics 12:1, 217-244
CrossRef34
Sam Kassegne, Bhuvnesh Arya. Genomics and DNA Microarrays. In: Microfluidics and Nanofluidics Handbook. CRC Press, 2011:1043-1052.
CrossRef35
Patricia Marino, Carole Siani, François Bertucci, Henri Roche, Anne-Laure Martin, Patrice Viens, Valérie Seror. (2011) Economic issues involved in integrating genomic testing into clinical care: the case of genomic testing to guide decision-making about chemotherapy for breast cancer patients. Breast Cancer Research and Treatment 129:2, 401-409
CrossRef36
Luke Burchill, Steven Greenway, Candice K. Silversides, Seema Mital. (2011) Genetic Counseling in the Adult with Congenital Heart Disease: What is the Role?. Current Cardiology Reports 13:4, 347-355
CrossRef37
Gwenyth R. Wallen, Georgie Cusack, Suzan Parada, Claiborne Miller-Davis, Tannia Cartledge, Jan Yates. (2011) Evaluating a hybrid web-based basic genetics course for health professionals. Nurse Education Today 31:6, 638-642
CrossRef38
Mariano A Giorgi, Christian Caroli, Hernán Cohen Arazi, Guillermo Di Girolamo. (2011) Pharmacogenomics and adverse drug reactions: the case of statins. Expert Opinion on Pharmacotherapy 12:10, 1499-1509
CrossRef39
Kenneth Offit. (2011) Personalized medicine: new genomics, old lessons. Human Genetics 130:1, 3-14
CrossRef40
Sanjay Jain, Laura De Petris, Masato Hoshi, Shreeram Akilesh, Rajshekhar Chatterjee, Helen Liapis. (2011) Expression profiles of podocytes exposed to high glucose reveal new insights into early diabetic glomerulopathy. Laboratory Investigation 91:4, 488-498
CrossRef41
Brent J. Small, Kerri Sharp Rawson, Erin Walsh, Heather S. L. Jim, Tiffany F. Hughes, Lindsay Iser, Michael A. Andrykowski, Paul B. Jacobsen. (2011) Catechol-O-methyltransferase genotype modulates cancer treatment-related cognitive deficits in breast cancer survivors. Cancer 117:7, 1369-1376
CrossRef42
W. Gregory Feero, Philip Zazove, Nancy G. Stevens. Clinical Genetics (Genomics). In: Textbook of Family Medicine. Elsevier, 2011:1013-1021.
CrossRef43
Durjoy Majumder, Abhik Mukherjee. (2011) A passage through systems biology to systems medicine: adoption of middle-out rational approaches towards the understanding of therapeutic outcomes in cancer. The Analyst 136:4, 663
CrossRef44
Carolina Aponte Urdaneta, John L. Beyer. Genetics of Affective Disorders. In: Principles and Practice of Geriatric Psychiatry. John Wiley & Sons, Ltd, 2010:460-463.
CrossRef45
Medha Bhagwat. Searching NCBI's dbSNP Database. In: Current Protocols in Bioinformatics. John Wiley & Sons, Inc., 2010.
CrossRef46
Gustavo de los Campos, Daniel Gianola, David B. Allison. (2010) Predicting genetic predisposition in humans: the promise of whole-genome markers. Nature Reviews Genetics 11:12, 880-886
CrossRef47
György Kosztolányi. (2010) Az első posztgenom évtized az orvostudományban. Orvosi Hetilap 151:51, 2099-2104
CrossRef48
Balaji S. Srinivasan, Eric A. Evans, Jason Flannick, A. Scott Patterson, Christopher C. Chang, Tuan Pham, Sharon Young, Amit Kaushal, James Lee, Jessica L. Jacobson, Pasquale Patrizio. (2010) A universal carrier test for the long tail of Mendelian disease. Reproductive BioMedicine Online 21:4, 537-551
CrossRef49
Chienming Chen, Chihchia Chen, Tsanhuang Shih, Tunwen Pai, Chinhua Hu, Wenshyong Tzou. (2010) Efficient algorithms for identifying orthologous simple sequence repeats of disease genes. Journal of Systems Science and Complexity 23:5, 906-916
CrossRef50
György Kosztolányi, Jean-Jacques Cassiman. (2010) The medical geneticist as expert in the transgenerational and developmental aspects of diseases. European Journal of Human Genetics 18:10, 1075-1076
CrossRef51
K. C. Koenen, M. Uddin, A. B. Amstadter, S. Galea. (2010) Incorporating the social environment in genotype environment interaction studies of mental disorders. International Journal of Clinical Practice 64:11, 1489-1492
CrossRef52
Elizabeth L. Pestka, Della J. Derscheid, Susan M. Ellenbecker, Phyllis J. Schmid, Marybeth L. O'Neil, Rita J. Ray-Mihm, Debra L. Cox. (2010) Use of Genomic Assessments and Interventions in Psychiatric Nursing Practice. Issues in Mental Health Nursing 31:10, 623-630
CrossRef53
J. Ignacio Valle-Mansilla, Miguel Ruiz-Canela, Daniel P. Sulmasy. (2010) Patients’ Attitudes to Informed Consent for Genomic Research With Donated Samples. Cancer Investigation 28:7, 726-734
CrossRef54
Fang Li, Richard M. Weinshilboum. Thiopurine S-Methyltransferase Pharmacogenomics: Protein Misfolding, Aggregation, and Degradation. In: Protein Misfolding Diseases. John Wiley & Sons, Inc., 2010:453-468.
CrossRef55
Kirsty Challen, Hilary Harris, Ulf Kristoffersson, Irmgard Nippert, Joerg Schmidtke, Leo P. Kate, Caroline Benjamin, Elizabeth Anionwu, Anne-Marie Plass, Claire Julian-Reynier, Rodney Harris. (2010) General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers’ practices. Journal of Community Genetics 1:2, 83-90
CrossRef56
Feero, W. Gregory, Guttmacher, Alan E., , Feero, W. Gregory, Guttmacher, Alan E., Collins, Francis S., . (2010) Genomic Medicine — An Updated Primer. New England Journal of Medicine 362:21, 2001-2011
Free Full Text57
Martin Schneider, Jürgen Weitz, Markus W. Büchler. (2010) The focus of Langenbeck’s Archives of Surgery in the 21st century. Langenbeck's Archives of Surgery 395:S1, 75-79
CrossRef58
Ronald E. Reid. The Pharmacogenomics of Personalized Medicine. In: Pharmaceutical Sciences Encyclopedia. John Wiley & Sons, Inc., 2010.
CrossRef59
Yijun Zuo, Guolian Kang. (2010) A mixed two-stage method for detecting interactions in genomewide association studies. Journal of Theoretical Biology 262:4, 576-583
CrossRef60
Paul Roepman. (2010) The future of diagnostic gene-expression microarrays: bridging the gap between bench and bedside. Bioanalysis 2:2, 249-262
CrossRef61
Alison Stewart, Marta Gwinn, Ron Zimmern, Muin Khoury. Public Health Genomics. In: Essentials of Genomic and Personalized Medicine. Elsevier, 2010:245-255.
CrossRef62
Stacy E.F. Melanson. Pharmacogenomics. In: Encyclopedia of Analytical Chemistry. John Wiley & Sons, Ltd, 2009.
CrossRef63
Quanhe Yang, W. Dana Flanders, Ramal Moonesinghe, John P.A. Ioannidis, Idris Guessous, Muin J. Khoury. (2009) Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty. The American Journal of Human Genetics 85:6, 786-800
CrossRef64
Rebekah Hamilton. (2009) Nursing Advocacy in a Postgenomic Age. Nursing Clinics of North America 44:4, 435-446
CrossRef65
Karen E. Greco, Catherine Salveson. (2009) Identifying Genetics and Genomics Nursing Competencies Common Among Published Recommendations. Journal of Nursing Education 48:10, 557-565
CrossRef66
M.-N. Kêdoté, É. Racine, H. Doucet. (2009) Perceptions des diabétiques à l’égard du développement de la médecine prédictive. Éthique & Santé 6:3, 127-133
CrossRef67
Robert A Fowler, Woganee Filate, Michael Hartleib, David W Frost, Chris Lazongas, Michelle Hladunewich. (2009) Sex and critical illness. Current Opinion in Critical Care 15:5, 442-449
CrossRef68
Noel T. Brewer, Alrick S. Edwards, Suzanne C. O’Neill, Janice P. Tzeng, Lisa A. Carey, Barbara K. Rimer. (2009) When genomic and standard test results diverge: implications for breast cancer patients’ preference for chemotherapy. Breast Cancer Research and Treatment 117:1, 25-29
CrossRef69
Peter A. Kopp. Genetics and Genomics. In: Brook's Clinical Pediatric Endocrinology. Wiley-Blackwell, 2009:1-23.
CrossRef70
B. Wilfond, L. F. Ross. (2009) From Genetics to Genomics: Ethics, Policy, and Parental Decision-making. Journal of Pediatric Psychology 34:6, 639-647
CrossRef71
Alison Harvey. (2009) From genetic risk to post-genomic uncertainties: nutrigenomics and the birth of the “genetic entrepreneur”. New Genetics and Society 28:2, 119-137
CrossRef72
Anna F Dominiczak, Christian Delles, Sandosh Padmanabhan. (2009) Are isolated populations better for studying genes that predispose to hypertension?. Journal of Hypertension 27:5, 939-940
CrossRef73
Kenneth B. Margulies, Daniel P. Bednarik, Daniel L. Dries. (2009) Genomics, Transcriptional Profiling, and Heart Failure. Journal of the American College of Cardiology 53:19, 1752-1759
CrossRef74
Alex R. Kemper, Donald B. Bailey. (2009) Pediatricians’ Knowledge of and Attitudes Toward Fragile X Syndrome Screening. Academic Pediatrics 9:2, 114-117
CrossRef75
Xiaoming Wang, Lili Liu, James Fackenthal, Shelly Cummings, Oluwatobi I. Olopade, Kisha Hope, Jonathan C. Silverstein, Olufunmilayo I. Olopade. (2009) Translational integrity and continuity: Personalized biomedical data integration. Journal of Biomedical Informatics 42:1, 100-112
CrossRef76
Ilka Warshawsky. Molecular Biology Basics for the Pathologist. In: Cell and Tissue Based Molecular Pathology. Elsevier, 2009:3-9.
CrossRef77
Matthew Lanktree, Jisun, Robert A. Hegele. (2008) Genetic testing for atherosclerosis risk: Inevitability or pipe dream?. Canadian Journal of Cardiology 24:11, 851-854
CrossRef78
Arpana Agrawal, Michael T. Lynskey. (2008) Are there genetic influences on addiction: evidence from family, adoption and twin studies. Addiction 103:7, 1069-1081
CrossRef79
José Antonio Iribarren Loyarte. (2008) Aplicabilidad de los estudios farmacogenéticos en la práctica clínica. Enfermedades Infecciosas y Microbiología Clínica 26, 45-54
CrossRef80
Elizabeth Penziner, Janet K. Williams, Cheryl Erwin, Yvonne Bombard, Anne Wallis, Leigh J. Beglinger, Michael R. Hayden, Jane S. Paulsen. (2008) Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B:3, 320-325
CrossRef81
John W. Holloway, Ian A. Yang, Stephen T. Holgate. (2008) Interpatient variability in rates of asthma progression: Can genetics provide an answer?. Journal of Allergy and Clinical Immunology 121:3, 573-579
CrossRef82
Kalpesh K. Patel, Mark W. Babyatsky. (2008) Medical Education: A Key Partner in Realizing Personalized Medicine in Gastroenterology. Gastroenterology 134:3, 656-661
CrossRef83
Claudia Wild. (2008) Polymorphism-screening: genetic testing for predisposition—guidance for technology assessment. Poiesis & Praxis 5:1, 1-14
CrossRef84
Gwen Anderson, Alison Metcalfe. (2008) Calling for international collaborative research in nursing, genetics and genomics: A discussion paper. International Journal of Nursing Studies 45:2, 323-328
CrossRef85
Alfredo Fucito, Chiara Lucchetti, Antonio Giordano, Gaetano Romano. (2008) Genetic and epigenetic alterations in breast cancer: What are the perspectives for clinical practice?. The International Journal of Biochemistry & Cell Biology 40:4, 565-575
CrossRef86
Caroline Benjamin, Maria Flynn, Christine Hallett, Ian Ellis, Katie Booth. (2008) The use of the life course paradigm and life course charts to explore referral for family history of breast cancer. International Journal of Nursing Studies 45:1, 95-109
CrossRef87
Peter N. Bennett, Morris J. Brown. General pharmacology. In: Clinical Pharmacology. Elsevier, 2008:75-114.
CrossRef88
Lisa DiMartino, Kelli D. Allen, Edward Kasarskis, Jennifer H. Lindquist, Cynthia J. Coffman, Eugene Z. Oddone. (2007) Characteristics associated with participation in DNA banking: The National Registry of Veterans with ALS. Contemporary Clinical Trials 28:5, 572-582
CrossRef89
Dhavendra Kumar. (2007) Genomic medicine: a new frontier of medicine in the twenty first century. Genomic Medicine 1:1-2, 3-7
CrossRef90
Carl Hanson, Lelinneth Novilla, Michael Barnes, Natalie De La Cruz, Aaron Meacham. (2007) Using Family Health History for Chronic Disease Prevention in the Age of Genomics. American Journal of Health Education 38:4, 219-229
CrossRef91
Jeffrey L. Anderson, John F. Carlquist, Benjamin D. Horne, Paul N. Hopkins. (2007) Progress in unraveling the genetics of coronary artery disease and myocardial infarction. Current Atherosclerosis Reports 9:3, 179-186
CrossRef92
Siobhan Dolan, Janis Biermann, Karla Damus. (2007) Genomics for Health in Preconception and Prenatal Periods. Journal of Nursing Scholarship 39:1, 4-9
CrossRef93
Jean Jenkins, Kathleen A. Calzone. (2007) Establishing the Essential Nursing Competencies for Genetics and Genomics. Journal of Nursing Scholarship 39:1, 10-16
CrossRef94
Brenton Louie, Peter Mork, Fernando Martin-Sanchez, Alon Halevy, Peter Tarczy-Hornoch. (2007) Data integration and genomic medicine. Journal of Biomedical Informatics 40:1, 5-16
CrossRef95
Wolf Rogowski. (2007) Current impact of gene technology on healthcare. Health Policy 80:2, 340-357
CrossRef96
Peter Tarczy-Hornoch, Mia K. Markey, John A. Smith, Tadaaki Hiruki. (2007) Bio*Medical informatics and genomic medicine: Research and training. Journal of Biomedical Informatics 40:1, 1-4
CrossRef97
D Ghosh, M A Skinner, W A Laing. (2007) Pharmacogenomics and nutrigenomics: synergies and differences. European Journal of Clinical Nutrition
CrossRef98
Minhaz Uddin Ahmed, Koutarou Idegami, Miyuki Chikae, Kagan Kerman, Piyasak Chaumpluk, Shohei Yamamura, Eiichi Tamiya. (2007) Electrochemical DNA biosensor using a disposable electrochemical printed (DEP) chip for the detection of SNPs from unpurified PCR amplicons. The Analyst 132:5, 431
CrossRef99
Angela M. Brand, Nicole M. Probst-Hensch. (2007) Biobanking for Epidemiological Research and Public Health. Pathobiology 74:4, 227-238
CrossRef100
HP Rang, MM Dale, JM Ritter, RJ Flower. Biopharmaceuticals and gene therapy. In: Rang & Dale's Pharmacology. Elsevier, 2007:770-780.
CrossRef101
Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard, Ada Hamosh. Introduction. In: Thompson & Thompson Genetics in Medicine. Elsevier, 2007:1-3.
CrossRef102
Helen N. Lyon, Bruce R. Korf. Human genome project, genomics, and clinical research. In: Principles and Practice of Clinical Research. Elsevier, 2007:405-420.
CrossRef103
Miriam Kelley Bullard, Mini Swift, Alden Harken. (2007) Genomics and the Cardiac Surgeon. Journal of Cardiac Surgery 22:1, 83-86
CrossRef104
Kathleen A. Calzone, Dale Halsey Lea, Agnes Masny. (2006) Non-Hodgkin's Lymphoma as an Exemplar of the Effects of Genetics and Genomics. Journal of Nursing Scholarship 38:4, 335-343
CrossRef105
Matthew R.G. Taylor, Janice G. Edwards, Lisa Ku. (2006) Lost in transition: Challenges in the expanding field of adult genetics. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 142C:4, 294-303
CrossRef106
Rodney Harris. Genetic Services: Access. In: Encyclopedia of Life Sciences. John Wiley & Sons, Ltd, 2006.
CrossRef107
Dale Halsey Lea, Janet K. Williams, Judith A. Cooksey, Patricia A. Flanagan, Gaetano Forte, Miriam G. Blitzer. (2006) U.S. Genetics Nurses in Advanced Practice. Journal of Nursing Scholarship 38:3, 213-218
CrossRef108
David Seo, Geoffrey S. Ginsburg, Pascal J. Goldschmidt-Clermont. (2006) Gene Expression Analysis of Cardiovascular Diseases. Journal of the American College of Cardiology 48:2, 227-235
CrossRef109
Alexandre Loktionov. Nutrigenomics and Pharmacogenomics of Human Cancer. CRC Press, 2006:261-317.
CrossRef110
C. Michael Cotten, Geoffrey S. Ginsburg, Ronald N. Goldberg, Marcy C. Speer. (2006) Genomic analyses: A neonatology perspective. The Journal of Pediatrics 148:6, 720-726
CrossRef111
Mark J. Millan. (2006) Multi-target strategies for the improved treatment of depressive states: Conceptual foundations and neuronal substrates, drug discovery and therapeutic application. Pharmacology & Therapeutics 110:2, 135-370
CrossRef112
&NA;. (2006) NNSDO Update. Journal for Nurses in Staff Development (JNSD) 22:3, 160-161
CrossRef113
William L. Carroll, Deepa Bhojwani, Dong-Joon Min, Naomi Moskowitz, Elizabeth A. Raetz. (2006) Childhood acute lymphoblastic leukemia in the age of genomics. Pediatric Blood & Cancer 46:5, 570-578
CrossRef114
Holly C. Gooding, Kurt Organista, Jeffrey Burack, Barbara Bowles Biesecker. (2006) Genetic susceptibility testing from a stress and coping perspective. Social Science & Medicine 62:8, 1880-1890
CrossRef115
Eric Racine, Isabelle Gareau, Hubert Doucet, Danielle Laudy, Guy Jobin, Pamela Schraedley-Desmond. (2006) Hyped biomedical science or uncritical reporting? Press coverage of genomics (1992–2001) in Québec. Social Science & Medicine 62:5, 1278-1290
CrossRef116
Terrie E. Moffitt, Avshalom Caspi, Michael Rutter. (2006) Measured Gene-Environment Interactions in Psychopathology. Concepts, Research Strategies, and Implications for Research, Intervention, and Public Understanding of Genetics. Perspectives on Psychological Science 1:1, 5-27
CrossRef117
Peter Oehr. (2006) ‘Omics’-based imaging in cancer detection and therapy. Personalized Medicine 3:1, 19-32
CrossRef118
Cathy Fomous, Joyce A. Mitchell, Alexa McCray. (2006) ‘Genetics Home Reference’: Helping Patients Understand the Role of Genetics in Health and Disease. Community Genetics 9:4, 274-278
CrossRef119
Andrew C. Ahn, Muneesh Tewari, Chi-Sang Poon, Russell S. Phillips. (2006) The Limits of Reductionism in Medicine: Could Systems Biology Offer an Alternative?. PLoS Medicine 3:6, e208
CrossRef120
Gloria R Grice, Terry L Seaton, Abigail M Woodland, Howard L McLeod. (2006) Defining the opportunity for pharmacogenetic intervention in primary care. Pharmacogenomics 7:1, 61-65
CrossRef121
Dale H. LEA, Judith A. COOKSEY, Patricia A. FLANAGAN, Janet K. WILLIAMS, Gaetano FORTE. (2005) Innovations in United States genetics nursing: Practice and research. Japan Journal of Nursing Science 2:2, 71-83
CrossRef122
Ancha Baranova, Karen Schlauch, Shobha Gowder, Rochelle Collantes, Vikas Chandhoke, Zobair M. Younossi. (2005) Microarray technology in the study of obesity and non-alcoholic fatty liver disease. Liver International 25:6, 1091-1096
CrossRef123
Carol Estwing Ferrans, Julie Johnson Zerwic, Jo Ellen Wilbur, Janet L. Larson. (2005) Conceptual Model of Health-Related Quality of Life. Journal of Nursing Scholarship 37:4, 336-342
CrossRef124
James C. Thomas, Debra E. Irwin, Erin Shaugnessy Zuiker, Robert C. Millikan. (2005) Genomics and the Public Health Code of Ethics. American Journal of Public Health 95:12, 2139-2143
CrossRef125
Levy, Harvey L., . (2005) Metabolic Disorders in the Center of Genetic Medicine. New England Journal of Medicine 353:18, 1968-1970
Full Text126
Konstantinos N. Lazaridis, Brian D. Juran. (2005) American Gastroenterological Association Future Trends Committee Report: The Application of Genomic and Proteomic Technologies to Digestive Disease Diagnosis and Treatment and Their Likely Impact on Gastroenterology Clinical Practice. Gastroenterology 129:5, 1720-1752
CrossRef127
Denis F. Kinane, Hideki Shiba, Thomas C. Hart. (2005) The genetic basis of periodontitis. Periodontology 2000 39:1, 91-117
CrossRef128
Ioannis S Vizirianakis. (2005) Improving pharmacotherapy outcomes by pharmacogenomics: from expectation to reality?. Pharmacogenomics 6:7, 701-711
CrossRef129
Ramón Cacabelos. (2005) Pharmacogenomics, nutrigenomics and therapeutic optimization in Alzheimer’s disease. Aging Health 1:2, 303-348
CrossRef130
Zobair M. Younossi, Ancha Baranova, Katharine Ziegler, Luca Del Giacco, Karen Schlauch, Timothy L. Born, Hazem Elariny, Francesco Gorreta, Amy VanMeter, Abraham Younoszai, Janus P. Ong, Zachary Goodman, Vikas Chandhoke. (2005) A genomic and proteomic study of the spectrum of nonalcoholic fatty liver disease. Hepatology 42:3, 665-674
CrossRef131
Zobair M. Younossi, Francesco Gorreta, Janus P. Ong, Karen Schlauch, Luca Del Giacco, Hazem Elariny, Amy Van Meter, Abraham Younoszai, Zachary Goodman, Anna Baranova, Alan Christensen, Geraldine Grant, Vikas Chandhoke. (2005) Hepatic gene expression in patients with obesity-related non-alcoholic steatohepatitis. Liver International 25:4, 760-771
CrossRef132
Evelyn Tiffany-Castiglioni, Vijayanagaram Venkatraj, Yongchang Qian. (2005) Genetic Polymorphisms and Mechanisms of Neurotoxicity: Overview. NeuroToxicology 26:4, 641-649
CrossRef133
Raquel Iniesta, Elisabet Guinó, Víctor Moreno. (2005) Análisis estadístico de polimorfismos genéticos en estudios epidemiológicos. Gaceta Sanitaria 19:4, 333-341
CrossRef134
E. Berntorp, J. Astermark, S. M. Donfield, G. W. Nelson, J. Oldenburg, A. D. Shapiro, D. M. Dimichele, B. M. Ewenstein, E. D. Gomperts, C. A. Winkler, . (2005) Haemophilia Inhibitor Genetics Study - evaluation of a model for studies of complex diseases using linkage and association methods. Haemophilia 11:4, 427-429
CrossRef135
Kirsty Challen, Hilary J Harris, Claire Julian-Reynier, Leo P ten Kate, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Caroline Benjamin, Rodney Harris. (2005) Genetic education and nongenetic health professionals: Educational providers and curricula in Europe. Genetics in Medicine 7:5, 302-310
CrossRef136
Suzanne Feetham, Elizabeth J. Thomson, Ada Sue Hinshaw. (2005) Nursing Leadership in Genomics for Health and Society. Journal of Nursing Scholarship 37:2, 102-110
CrossRef137
Jean Jenkins, Patricia A. Grady, Francis S. Collins. (2005) Nurses and the Genomic Revolution. Journal of Nursing Scholarship 37:2, 98-101
CrossRef138
Ruth M. DeBusk. (2005) Editorial. Nutrition & Dietetics 62:2-3, 63-65
CrossRef139
Teena M. McGuinness, Patricia Noonan, Janyce G. Dyer. (2005) Family History as a Tool for Psychiatric Nurses. Archives of Psychiatric Nursing 19:3, 116-124
CrossRef140
Cynthia A. Moore, Muin J. Khoury, Linda A. Bradley. (2005) From Genetics to Genomics: Using Gene-Based Medicine to Prevent Disease and Promote Health in Children. Seminars in Perinatology 29:3, 135-143
CrossRef141
Amanda A. Fox, Stanton K. Shernan, Simon C. Body, Charles D. Collard. (2005) Genetic Influences on Cardiac Surgical Outcomes. Journal of Cardiothoracic and Vascular Anesthesia 19:3, 379-391
CrossRef142
M.J.E. Rijn, C.M. Duijn, A.J.C. Slooter. (2005) The impact of genetic testing on complex diseases. European Journal of Epidemiology 20:5, 383-388
CrossRef143
Konstantinos N. Lazaridis, Gloria M. Petersen. (2005) Genomics, genetic epidemiology, and genomic medicine. Clinical Gastroenterology and Hepatology 3:4, 320-328
CrossRef144
Ronald J Trent. DNA, RNA, Genes and Chromosomes. In: Molecular Medicine. Elsevier, 2005:17-I.
CrossRef145
Vivian Ota Wang, Stanley Sue. (2005) In the Eye of the Storm: Race and Genomics in Research and Practice.. American Psychologist 60:1, 37-45
CrossRef146
Allen C. Nunnally, Christopher J. Webster, Scott A. Brown, Gary A. Cohen. (2005) Genetic Patent Protection in the Pharmaceutical and Biotechnology Industries. Community Genetics 8:4, 209-216
CrossRef147
Marc D. Schwartz, Beth N. Peshkin, Kenneth P. Tercyak, Kathryn L. Taylor, Heiddis Valdimarsdottir. (2005) Decision Making and Decision Support for Hereditary Breast-Ovarian Cancer Susceptibility.. Health Psychology 24:4, Suppl, S78-S84
CrossRef148
F. Rodríguez de Castro, J. Solé-Violán, J.C. Rodríguez-Gallego. (2005) Variabilidad genética en la susceptibilidad y en la gravedad de la neumonía. Archivos de Bronconeumología 41, 21-29
CrossRef149
DeWayne M. Pursley, Gary A. Silverman. Impact of the Human Genome Project on Neonatal Care. In: Avery's Diseases of the Newborn. Elsevier, 2005:171-185.
CrossRef150
James A. Marcum. (2005) Biomechanical and phenomenological models of the body, the meaning of illness and quality of care. Medicine, Health Care and Philosophy 7:3, 311-320
CrossRef151
Charles Gawad. (2005) Towards Molecular Medicine. American Journal of PharmacoGenomics 5:4, 207-211
CrossRef152
Regina E. Ensenauer, Virginia V. Michels, Shanda S. Reinke. (2005) Genetic Testing: Practical, Ethical, and Counseling Considerations. Mayo Clinic Proceedings 80:1, 63-73
CrossRef153
Julian Little, Linda Sharp, Muin J Khoury, Linda Bradley, Marta Gwinn. (2005) The Epidemiologic Approach to Pharmacogenomics. American Journal of PharmacoGenomics 5:1, 1-20
CrossRef154
Ronald J Trent. Genomics, Proteomics and Bioinformatics. In: Molecular Medicine. Elsevier, 2005:119-III.
CrossRef155
Bertrand L. Jaber, Brian J.G. Pereira, Joseph V. Bonventre, Vaidyanathapuram S. Balakrishnan. (2005) Polymorphism of host response genes: Implications in the pathogenesis and treatment of acute renal failure. Kidney International 67:1, 14-33
CrossRef156
Kathleen Ries Merikangas, Nancy C. P. Low. (2004) The epidemiology of mood disorders. Current Psychiatry Reports 6:6, 411-421
CrossRef157
R. Shah, B. Darne, D. Atar, E. Abadie, K.F. Adams, F. Zannad, . (2004) Pharmacogenomics in cardiovascular clinical trials. Fundamental and Clinical Pharmacology 18:6, 705-708
CrossRef158
Lieve Nuytinck, Fred Shapiro. (2004) Mannose-binding lectin: laying the stepping stones from clinical research to personalized medicine. Personalized Medicine 1:1, 35-52
CrossRef159
Laura M. Beskow, Jeffrey R. Botkin, Mary Daly, Eric T. Juengst, Lisa Soleymani Lehmann, Jon F. Merz, Rebecca Pentz, Nancy A. Press, Lainie Friedman Ross, Jeremy Sugarman, Lisa R. Susswein, Sharon F. Terry, Melissa A. Austin, Wylie Burke. (2004) Ethical issues in identifying and recruiting participants for familial genetic research. American Journal of Medical Genetics 130A:4, 424-431
CrossRef160
K. Schreiber, T. Girard, C. H. Kindler. (2004) Bibliometric analysis of original molecular biology research in anaesthesia. Anaesthesia 59:10, 1002-1007
CrossRef161
SHARON D. HORNER. (2004) Ethics and Genetics. Clinical Nurse Specialist 18:5, 228-231
CrossRef162
Debra L. Schutte. (2004) The evolving role of genomics in shaping care for persons with dementia. Nursing Clinics of North America 39:3, 581-592
CrossRef163
B. Godard, J. Marshall, C. Laberge, B. M. Knoppers. (2004) Strategies for consulting with the community: The cases of four large-scale genetic databases. Science and Engineering Ethics 10:3, 457-477
CrossRef164
W.Gregory Feero. (2004) Genetic thrombophilia. Primary Care: Clinics in Office Practice 31:3, 685-709
CrossRef165
Kathleen A. Calzone, Agnes Masny. (2004) Genetics and oncology nursing. Seminars in Oncology Nursing 20:3, 178-185
CrossRef166
Stefano Rossetti, André T Hoogeveen, Nicoletta Sacchi. (2004) The MTG proteins: chromatin repression players with a passion for networking. Genomics 84:1, 1-9
CrossRef167
Jose D Debes, Raul Urrutia. (2004) Bioinformatics tools to understand human diseases. Surgery 135:6, 579-585
CrossRef168
Barkur S. Shastry. (2004) Role of SNP/haplotype map in gene discovery and drug development: An overview. Drug Development Research 62:2, 143-150
CrossRef169
SG Suther, P Goodson. (2004) Texas physicians' perceptions of genomic medicine as an innovation. Clinical Genetics 65:5, 368-377
CrossRef170
Richard R. Sharp, Michael A. Yudell, Samuel H. Wilson. (2004) Science and society: Shaping science policy in the age of genomics. Nature Reviews Genetics 5:4, 311-315
CrossRef171
Sharon D. Horner, Elizabeth Abel, Kay Taylor, Delores Sands. (2004) Using theory to guide the diffusion of genetics content in nursing curricula. Nursing Outlook 52:2, 80-84
CrossRef172
Moshe Zilberstein. (2004) Mining the human genome for new health therapies. Fertility and Sterility 81, 4-8
CrossRef173
David A. Fishbain, Dana Fishbain, John Lewis, R. B. Cutler, Brandly Cole, H. L. Rosomoff, R. Steele Rosomoff. (2004) Genetic Testing for Enzymes of Drug Metabolism: Does It Have Clinical Utility for Pain Medicine at the Present Time? A Structured Review. Pain Medicine 5:1, 81-93
CrossRef174
Ronald JA Trent, Bing Yu, Melody Caramins. (2004) Challenges for clinical genetic DNA testing. Expert Review of Molecular Diagnostics 4:2, 201-208
CrossRef175
Sonja A. Rasmussen, Cynthia A. Moore. (2004) Public health approach to birth defects, developmental disabilities, and genetic conditions. American Journal of Medical Genetics 125C:1, 1-3
CrossRef176
F Martin-Sanchez, I Iakovidis, S Nørager, V Maojo, P de Groen, J Van der Lei, T Jones, K Abraham-Fuchs, R Apweiler, A Babic, R Baud, V Breton, P Cinquin, P Doupi, M Dugas, R Eils, R Engelbrecht, P Ghazal, P Jehenson, C Kulikowski, K Lampe, G De Moor, S Orphanoudakis, N Rossing, B Sarachan, A Sousa, G Spekowius, G Thireos, G Zahlmann, J Zvárová, I Hermosilla, F.J Vicente. (2004) Synergy between medical informatics and bioinformatics: facilitating genomic medicine for future health care. Journal of Biomedical Informatics 37:1, 30-42
CrossRef177
Joseph Pearlberg, Joshua LaBaer. (2004) Protein expression clone repositories for functional proteomics. Current Opinion in Chemical Biology 8:1, 98-102
CrossRef178
Theresa A. Beery, Marcia J. Hern. (2004) Genetic Practice, Education, and Research. Clinical Nurse Specialist 18:3, 126-132
CrossRef179
Kari Hemminki, Xinjun Li, Kamila Czene. (2004) Familial risk of cancer: Data for clinical counseling and cancer genetics. International Journal of Cancer 108:1, 109-114
CrossRef180
Stephanie J. Green, Donna K. Pauler. (2004) Statistics in clinical trials. Current Oncology Reports 6:1, 36-41
CrossRef181
Sandrine Guis, Jean-Pierre Mattéi, Frédéric Lioté. (2003) Drug-induced and toxic myopathies. Best Practice & Research Clinical Rheumatology 17:6, 877-907
CrossRef182
Dale Halsey Lea. (2003) How genetics changes daily practice. Nursing Management (Springhouse) 34:11, 19-24
CrossRef183
Manuel Favre, Christophe Butticaz, Brian Stevenson, C. Victor Jongeneel, Amalio Telenti. (2003) High Frequency of Alternative Splicing of Human Genes Participating in the HIV-1 Life Cycle. JAIDS Journal of Acquired Immune Deficiency Syndromes 34:2, 127-133
CrossRef184
Guttmacher, Alan E., Collins, Francis S., . (2003) Welcome to the Genomic Era. New England Journal of Medicine 349:10, 996-998
Free Full Text185
Guttmacher, Alan E., Collins, Francis S., , Burke, Wylie, . (2003) Genomics as a Probe for Disease Biology. New England Journal of Medicine 349:10, 969-974
Free Full Text186
David Schottenfeld. (2003) “What's past is prologue”: a tribute to Abraham Lilienfeld. Annals of Epidemiology 13:8, 549-551
CrossRef187
Jun Yoshioka, Richard T. Lee. (2003) Cardiovascular genomics. Cardiovascular Pathology 12:5, 249-254
CrossRef188
Ramón Cacabelos. (2003) The application of functional genomics to Alzheimer’s disease. Pharmacogenomics 4:5, 597-621
CrossRef189
Robert E. Taylor. (2003) Pharmacological and Cultural Considerations in Alcohol Treatment Clinical Trials: Issues in Clinical Research Related to Race and Ethnicity. Alcoholism: Clinical & Experimental Research 27:8, 1345-1348
CrossRef190
Randy Todd, Merideth August. (2003) Molecular approaches to the diagnosis of sporadic and nevoid basal cell carcinoma syndrome-associated odontogenic keratocysts. Oral and Maxillofacial Surgery Clinics of North America 15:3, 447-461
CrossRef191
Joann Genovich-Richards. (2003) Interview with a Quality Leader: Dale Schumacher on Strategic Quality Planning and Research. Journal for Healthcare Quality 25:4, 16-39
CrossRef192
Basil Hanss, Leslie A. Bruggeman. (2003) Applications of gene therapy to kidney disease. Current Opinion in Nephrology and Hypertension 12:4, 439-445
CrossRef193
Regina E. Ensenauer, Shanda S. Reinke, Michael J. Ackerman, David J. Tester, David A.H. Whiteman, Ayalew Tefferi. (2003) Primer on Medical Genomics Part VIII: Essentials of Medical Genetics for the Practicing Physician. Mayo Clinic Proceedings 78:7, 846-857
CrossRef194
Muin J. Khoury. (2003) Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease. Genetics in Medicine 5:4, 261-268
CrossRef195
Luisa Mestroni. (2003) Genomic medicine and atrial fibrillation. Journal of the American College of Cardiology 41:12, 2193-2196
CrossRef196
Robert J Zagursky, Stephen B Olmsted, David P Russell, Joe L Wooters. (2003) Bioinformatics: how it is being used to identify bacterial vaccine candidates. Expert Review of Vaccines 2:3, 417-436
CrossRef197
Kathryn A Phillips, David Veenstra, Stephanie Van Bebber, Julie Sakowski. (2003) An introduction to cost-effectiveness and cost–benefit analysis of pharmacogenomics. Pharmacogenomics 4:3, 231-239
CrossRef198
Seth E Dobrin, Dietrich A Stephan. (2003) Integrating microarrays into disease-gene identification strategies. Expert Review of Molecular Diagnostics 3:3, 375-385
CrossRef199
Vincent Mooser, Jose M. Ordovas. (2003) ‘Omic’ approaches and lipid metabolism: are these new technologies holding their promises?. Current Opinion in Lipidology 14:2, 115-119
CrossRef200
Jesús Villar, Carlos Flores, Sebastián Méndez-Alvarez. (2003) Genetic susceptibility to acute lung injury. Critical Care Medicine 31:Supplement, S272-S275
CrossRef201
Rasih Atilla Ener, Sharon B. Meglathery, William A. Van Decker, Rollin M. Gallagher. (2003) Serotonin Syndrome and Other Serotonergic Disorders. Pain Medicine 4:1, 63-74
CrossRef202
Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J.M. Friedman, W. Dana Flanders. (2003) Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes. The American Journal of Human Genetics 72:3, 636-649
CrossRef203
(2003) Genomic Medicine. New England Journal of Medicine 348:8, 759-760
Free Full Text204
Goldstein, David B., . (2003) Pharmacogenetics in the Laboratory and the Clinic. New England Journal of Medicine 348:6, 553-556
Free Full Text205
Phyllis Griffin Epps. (2003) Policy Before Practice. American Journal of PharmacoGenomics 3:6, 405-418
CrossRef206
K.R. MERIKANGAS. (2003) Implications of Genomics for Public Health: The Role of Genetic Epidemiology. Cold Spring Harbor Symposia on Quantitative Biology 68:0, 359-364
CrossRef207
Varmus, Harold, . (2002) Getting Ready for Gene-Based Medicine. New England Journal of Medicine 347:19, 1526-1527
Free Full Text
- Glossary
Glossary
-
Allele:
— An alternative form of a gene.
-
Alternative splicing:
— A regulatory mechanism by which variations in the incorporation of a gene's exons, or coding regions, into messenger RNA lead to the production of more than one related protein, or isoform.
-
Autosomes:
— All of the chromosomes except for the sex chromosomes and the mitochondrial chromosome.
-
Centromere:
— The constricted region near the center of a chromosome that has a critical role in cell division.
-
Codon:
— A three-base sequence of DNA or RNA that specifies a single amino acid.
-
Conservative mutation:
— A change in a DNA or RNA sequence that leads to the replacement of one amino acid with a biochemically similar one.
-
Epigenetic:
— A term describing nonmutational phenomena, such as methylation and histone modification, that modify the expression of a gene.
-
Exon:
— A region of a gene that codes for a protein.
-
Frame-shift mutation:
— The addition or deletion of a number of DNA bases that is not a multiple of three, thus causing a shift in the reading frame of the gene. This shift leads to a change in the reading frame of all parts of the gene that are downstream from the mutation, often leading to a premature stop codon and ultimately, to a truncated protein.
-
Gain-of-function mutation:
— A mutation that produces a protein that takes on a new or enhanced function.
-
Genomics:
— The study of the functions and interactions of all the genes in the genome, including their interactions with environmental factors.
-
Genotype:
— A person's genetic makeup, as reflected by his or her DNA sequence.
-
Haplotype:
— A group of nearby alleles that are inherited together.
-
Heterozygous:
— Having two different alleles at a specific autosomal (or X chromosome in a female) gene locus.
-
Homozygous:
— Having two identical alleles at a specific autosomal (or X chromosome in a female) gene locus.
-
Intron:
— A region of a gene that does not code for a protein.
-
Linkage disequilibrium:
— The nonrandom association in a population of alleles at nearby loci.
-
Loss-of-function mutation:
— A mutation that decreases the production or function of a protein (or does both).
-
Missense mutation:
— Substitution of a single DNA base that results in a codon that specifies an alternative amino acid.
-
Monogenic:
— Caused by a mutation in a single gene.
-
Motif:
— A DNA-sequence pattern within a gene that, because of its similarity to sequences in other known genes, suggests a possible function of the gene, its protein product, or both.
-
Multifactorial:
— Caused by the interaction of multiple genetic and environmental factors.
-
Nonconservative mutation:
— A change in the DNA or RNA sequence that leads to the replacement of one amino acid with a very dissimilar one.
-
Nonsense mutation:
— Substitution of a single DNA base that results in a stop codon, thus leading to the truncation of a protein.
-
Penetrance:
— The likelihood that a person carrying a particular mutant gene will have an altered phenotype.
-
Phenotype:
— The clinical presentation or expression of a specific gene or genes, environmental factors, or both.
-
Point mutation:
— The substitution of a single DNA base in the normal DNA sequence.
-
Regulatory mutation:
— A mutation in a region of the genome that does not encode a protein but affects the expression of a gene.
-
Repeat sequence:
— A stretch of DNA bases that occurs in the genome in multiple identical or closely related copies.
-
Silent mutation:
— Substitution of a single DNA base that produces no change in the amino acid sequence of the encoded protein.
-
Single-nucleotide polymorphism (SNP):
— A common variant in the genome sequence; the human genome contains about 10 million SNPs.
-
Stop codon:
— A codon that leads to the termination of a protein rather than to the addition of an amino acid. The three stop codons are TGA, TAA, and TAG.
-
- Letters
