Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

ABSTRACT: Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.

SUBMITTER: Smith KR 

PROVIDER: S-EPMC3308048 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature