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Bioinformatics. 2016 Jan 1;32(1):151-3. doi: 10.1093/bioinformatics/btv511. Epub 2015 Sep 12.

DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.

Author information

1
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Abstract

MOTIVATION:

A plethora of sequenced and genotyped disease cohorts is available to the biomedical research community, spread across many portals and represented in various formats.

RESULTS:

We have gathered several large studies, including GERA and GRU, and computed population- and disease-specific genetic variant frequencies. In total, our portal provides fast access to genetic variants observed in 84,928 individuals from 39 disease populations. We also include 66,335 controls, such as the 1000 Genomes and Scripps Wellderly.

CONCLUSION:

Combining multiple studies helps validate disease-associated variants in each underlying data set, detect potential false positives using frequencies of control populations, and identify novel candidate disease-causing alterations in known or suspected genes.

AVAILABILITY AND IMPLEMENTATION:

https://rvs.u.hpc.mssm.edu/divas

CONTACT:

rong.chen@mssm.edu

SUPPLEMENTARY INFORMATION:

Supplementary data are available at Bioinformatics online.

PMID:
26363178
PMCID:
PMC4681987
DOI:
10.1093/bioinformatics/btv511
[Indexed for MEDLINE]
Free PMC Article

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