Description

Genome-scale scans of human genetic variation in both healthy and diseased populations are producing a tremendous amount of new genotype-phenotype association data. Presentations and demonstrations in this session showcase the content, scope, and use of data from community resource projects accessible through databases, downloads, submissions, and tools listed on the Genetics and Medicine section of the NCBI Guide site.

Objectives

1. Learn how to find and download data sets of interest.
2. Understand how data sets are generated, deposited, and managed at the NCBI.
3. Understand the differences between individual-level data and aggregate public access data derived from human subjects.
4. Learn how to generate variation annotation reports for variants of interest.

Target Audience

This session is intended for biomedical researchers or genetic professionals (investigators, post-docs, graduate students) who want to work with genome-scale genetic information in their research and emphasizes interactive access to these data using a web browser. The session demonstrates NCBI web and client-side applications that can be used to obtain, manage and analyze genome-scale data. The presentations should be of interest to both occasional users and those routinely working with large data sets.

Speakers

Deanna M. Church
Getting the Most from the Reference Human Genome Assembly  Slides
This talk describes changes in the current reference human genome assembly, explains how these changes impact your genome analysis (such as variant identification), and shows you how to find the latest information.

Stephen T. Sherry
Variation Resources  Slides
NCBI manages both small genomic variants (dbSNP) and large-scale variation (dbVar). This talk guides you through the structure of these resources, and demonstrates how they are integrated with other NCBI databases and information retrieval systems.

Mike Feolo   Slides
Genotype and Phenotype information
This presentation provides an overview of the NCBI’s database of Genotypes and Phenotypes (dbGAP), an archive of genome scale studies of disease association. This talk shows you how to navigate the large array of current studies archived in dbGaP including how to browse public data and request controlled access data.

Donna R. Maglott  Slides
Medical Genetics Resources
This talk demonstrates access to tools and databases at NCBI related to the genetic basis of human diseases and disorders—from publications to sequence to testing.