Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies.

ABSTRACT: Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it is still unclear whether afflicted families are likely to share a single highly penetrant rare variant, many minimally penetrant common variants, or a combination of the two types of variants. We therefore use recent estimates of SNP heritability and the liability threshold model to estimate the proportion of afflicted families likely to carry a rare, causal variant. We then show that Polygenic Risk Scores (PRS) may be useful for identifying families likely to carry such a rare variant and therefore for prioritizing families to include in sequencing studies with that aim. Specifically, we introduce a new statistic that estimates the proportion of individuals carrying causal rare variants base

SUBMITTER: Schlafly A 

PROVIDER: S-EPMC6881075 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature