Research at NHGRI

See Also: Online Research Resources
for Genetic and Genomic Researchers

Online Research Resources Developed at NHGRI

NHGRI Research Projects

  • Breast Cancer Information Core (BIC)
    A central repository for information regarding mutations and polymorphisms in breast cancer susceptibility genes.

  • Histone Sequence Database
    An updated collection of histone-fold containing proteins.

  • Homeodomain Resource
    An annotated collection of non-redundant protein sequences, three-dimensional structures, and genomic information for the homeodomain protein family.

  • Limb Morphology Database
    Standardized terms used to describe human morphology developed by an international group of clinicians working in the field of dysmorphology.

  • Lowe Syndrome Mutation Database
    A database of mutations causing Lowe syndrome.

  • Multiplex Initiative
    A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions.

  • The NHGRI Dog Genome Project
    A project to develop resources necessary to map and clone canine genes in an effort to utilize dogs as a model system for genetics and cancer research.

  • Pallister-Hall Syndrome
    Information for professionals and families caring for or affected by Pallister-Hall Syndrome.

  • Pigment Cell Gene Resource New
    A centralized, comprehensive resource of published scientific data relevant to pigment cell biology.

  • Red Cell Membrane Disorder Mutations Database New
    A database containing confirmed mutations to inherited disorders of the erythrocyte membrane associated with hemolytic anemia including Hereditary Spherocytosis (HS), Hereditary Elliptocytosis (HE) Hereditary Pyropoikilocytosis (HPP).

  • X-Linked SCID Mutation Database (IL2RGbase)
    A database of mutations that cause X-linked severe combined immunodeficiency (XSCID or X-SCID).

NHGRI-Developed Software and Analysis Tools

  • bam2mpg New
    A Bayesian genotype caller for NextGen sequencing data.

  • Conserved Domain-based Prediction (CDPred)
    A computational algorithm that is designed to theoretically calculate the effect of substituting an amino acid relative to the reference sequence within functional modules - the protein domains.

  • ENCODEdb
    A portal providing users a single, unified point-of-access to data generated by the ENCODE Pilot Project.

  • GeneLink
    A data management system designed to facilitate genetic studies of complex traits.

  • Genometric Analysis Simulation Program (G.A.S.P.)
    A software suite that provides an interactive user interface for the mining and analysis of microarray gene expression data.

  • Graphical Assessment of Sliding P-values (GrASP)
    A graphical tool to present p-values from sliding-window haplotype tests of association.

  • ROMPrev
    A software suite for quantitative trait and locus-specific heritability estimation and association testing using the revised ROMP method.

    A tool for scoring exonic variants for features associated with exon skipping and ectopic splice site creation.

  • SOOP
    A tool for the design and selection of overgo probes optimized for high-throughput comparative mapping.

  • Tiled Regression Analysis Package (TRAP) New
    A software framework for selecting a set of genetic predictors which jointly explain trait variation with an additive regression model.

  • Var-MD New
    An annotation and analysis tool for next-generation sequencing variants in rare diseases and small pedigrees.

  • VarSifter New
    A graphical java program designed to display, sort, filter, and generally sift variation data from massively parallel sequencing experiments.

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Last Updated: January 5, 2012