Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.

ABSTRACT: Over 900 genes have been annotated within duplicated regions of the human genome, yet their functions and potential roles in disease remain largely unknown. One major obstacle has been the inability to accurately and comprehensively assay genetic variation for these genes in a high-throughput manner. We developed a sequencing-based method for rapid and high-throughput genotyping of duplicated genes using molecular inversion probes designed to target unique paralogous sequence variants. We applied this method to genotype all members of two gene families, SRGAP2 and RH, among a diversity panel of 1,056 humans. The approach could accurately distinguish copy number in paralogs having up to ∼99.6% sequence identity, identify small gene-disruptive deletions, detect single-nucleotide variants, de

SUBMITTER: Nuttle X 

PROVIDER: S-EPMC3985568 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature