title: DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
  
  
  METHODS
  https://rvs.u.hpc.mssm.edu/divas
  
  
  BACKGROUND
  rong.chen@mssm.edu
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
authors.forename: Wei-Yi
authors.initials: WY
authors.lastname: Cheng
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
authors.forename: Jörg
authors.initials: J
authors.lastname: Hakenberg
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
authors.forename: Shuyu Dan
authors.initials: SD
authors.lastname: Li
authors.affiliation: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
authors.forename: Rong
authors.initials: R
authors.lastname: Chen
mesh_terms: D015331:Cohort Studies; D030541:Databases, Genetic; D004194:Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D012984:Software; D014584:User-Computer Interface