Developing the "next generation" of genetic association databases for complex diseases

Hum Mutat. 2012 Sep;33(9):1366-72. doi: 10.1002/humu.22149. Epub 2012 Jul 12.

Abstract

Tens of thousands of genetic association studies investigating the influence of common polymorphisms on disease susceptibility have been published to date. These include ∼1,000 genome-wide association studies (GWAS). This vast amount of data in the field of complex genetics is becoming increasingly difficult to follow and interpret. It can be expected that the situation will become even more complex with the advent of association projects using "next-generation" technologies. One of the aims of the Human Variome Project is to concatenate such data in meaningful ways, for example, within the context of publicly available field synopses. Here, we present various examples of online genetic association databases developed by our group for neuropsychiatric disorders. One integral part of this model is the systematic inclusion of data from large-scale genotyping projects, for example, GWAS, while respecting the privacy of data contributors. We believe that our database approach may serve as a viable model that can be readily applied to other fields and ultimately improve our understanding of the genetic forces driving common human conditions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Genetic*
  • Gene Frequency
  • Genetic Privacy / legislation & jurisprudence
  • Genetic Variation
  • Genome, Human
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • Models, Genetic
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics*
  • Software