Genome-Wide Association Mapping and Rare Alleles: from Population Genomics to Personalized Medicine


Francisco De La Vega1, Carlos Bustamante2, Suzanne Leal3



1Life Technologies Foster City, CA 94403, USA; 2Department of Genetics, Stanford University Stanford, CA, USA; 3Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX 77030, USA;
Email: Francisco.delavega@lifetech.com

Pacific Symposium On Biocomputing 16:74-75(2011)


Abstract

Genome-wide associations studies (GWAS) have been very successful in identifying common genetic variation associated to numerous complex diseases [1]. However, most of the identified common genetic variants appear to confer modest risk and few causal alleles have been identified [2]. Furthermore, these associations account for a small portion of the total heritability of inherited disease variation [1]. This has led to the reexamination of the contribution of environment, genegene and gene-environment interactions, and rare genetic variants in complex diseases [1, 3, 4]. There is strong evidence that rare variants play an important role in complex disease etiology and may have larger genetic effects than common variants [2].


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