Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level.

ABSTRACT: Genetic association analyses of rare variants in next-generation sequencing (NGS) studies are fundamentally challenging due to the presence of a very large number of candidate variants at extremely low minor allele frequencies. Recent developments often focus on pooling multiple variants to provide association analysis at the gene instead of the locus level. Nonetheless, pinpointing individual variants is a critical goal for genomic researches as such information can facilitate the precise delineation of molecular mechanisms and functions of genetic factors on diseases. Due to the extreme rarity of mutations and high-dimensionality, significances of causal variants cannot easily stand out from those of noncausal ones. Consequently, standard false-positive control procedures, such as the Bo

SUBMITTER: Jeng XJ 

PROVIDER: S-EPMC4927097 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature