An Introduction to Genome-Wide Association Studies: GWAS for Dummies.

Abstract:

:Although the genetic origin of many human diseases and phenotypes has been long and widely recognized, identification of the causative gene alleles has been limited, slow, and cumbersome. This has changed substantially with the introduction of genome-wide association studies (GWASs) a decade ago, fueled by studies and reference projects of human genetic diversity and the development of novel DNA analysis technology applicable to high-throughput and large-scale data generation. Although GWASs essentially combine epidemiological study designs with molecular genetic analysis techniques, it has also fundamentally changed the way in which research was done in human genetics by the introduction of large consortia of collaborating investigators. GWASs have over flooded many clinical and basic research areas with gene discoveries, including those in reproductive medicine. This review describes aspects of GWAS methodology and how this field of human genetics is developing.

journal_name

Semin Reprod Med

authors

Uitterlinden AG

doi

10.1055/s-0036-1585406

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

196-204

issue

4

eissn

1526-8004

issn

1526-4564

journal_volume

34

pub_type

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