PGP:Association Studies

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Purpose
Linking genotype to phenotype whether it be traits, diseases or environmental factors is a challenge in any large association studies. There are multiple reviews on this topic Kruglyak2008 Couzin2007 GWAS2007 Cheung2005. Whatever its limitation may be, it can provide a valuable epidemiological point of view of human genetics. Many associations may not be causative, but they can serve as markers for preventive interventions for common medical disorders and unhealthy lifestyles. As the field moves from using high density arrays to full and targeted genome sequencing of a very large human population, we will be able to address even rare mutations and variants and get even more association data.

With multitudes of both full-scale sequencing and functional genomics data, PGP will attempt to link human traits (both normal and abnormal) to a particular genetic loci using various association techniques. As we collect more volunteers (currently, there are up to 10,000 volunteers waiting), we will start exhaustive cataloging of normal human traits. While focusing on disease cohorts may yield quicker results, we believe that normal genetic determinants of human physiology like play an important role in human diseases in different environments.