Detecting Rare Mutations with Heterogeneous Effects Using a Family-Based Genetic Random Field Method.

ABSTRACT: The genetic etiology of many complex diseases is highly heterogeneous. A complex disease can be caused by multiple mutations within the same gene or mutations in multiple genes at various genomic loci. Although these disease-susceptibility mutations can be collectively common in the population, they are often individually rare or even private to certain families. Family-based studies are powerful for detecting rare variants enriched in families, which is an important feature for sequencing studies due to the heterogeneous nature of rare variants. In addition, family designs can provide robust protection against population stratification. Nevertheless, statistical methods for analyzing family-based sequencing data are underdeveloped, especially those accounting for heterogeneous etiology of

SUBMITTER: Li M 

PROVIDER: S-EPMC6216585 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature