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Dissecting the genetics of complex traits using summary association statistics

2016; Nature Portfolio; Volume: 18; Issue: 2 Linguagem: Inglês

10.1038/nrg.2016.142

1471-0064

Bogdan Paşaniuc, Alkes L. Price,

Epigenetics and DNA Methylation

Investigating the genetic basis of complex traits and diseases using individual-level genetic data from genome-wide association studies is often hampered by privacy concerns and logistical considerations. Here, the authors review recent statistical methods that leverage summary association data, which are widely available and can circumvent these issues. During the past decade, genome-wide association studies (GWAS) have been used to successfully identify tens of thousands of genetic variants associated with complex traits and diseases. These studies have produced extensive repositories of genetic variation and trait measurements across large numbers of individuals, providing tremendous opportunities for further analyses. However, privacy concerns and other logistical considerations often limit access to individual-level genetic data, motivating the development of methods that analyse summary association statistics. Here, we review recent progress on statistical methods that leverage summary association data to gain insights into the genetic basis of complex traits and diseases.