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

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 know

SUBMITTER: Cheng WY 

PROVIDER: S-EPMC4681987 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature