Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

ABSTRACT:

Purpose

Disease-causing mutations and pharmacogenomic variants are of primary interest for clinical whole-genome sequencing. However, estimating genetic liability for common complex diseases using established risk alleles might one day prove clinically useful.

Methods

We compared polygenic scoring methods using a case-control data set with independently discovered risk alleles in the MedSeq Project. For eight traits of clinical relevance in both the primary-care and cardiomyopathy study cohorts, we estimated multiplicative polygenic risk scores using 161 published risk alleles and then normalized them using the population median estimated from the 1000 Genomes Project.

Results

Our polygenic score approach identified the overrepresentation of independently discovered r

SUBMITTER: Kong SW 

PROVIDER: S-EPMC4547452 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature