Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.

ABSTRACT: High-throughput sequencing provides the means to determine the allelic decomposition for any gene of interest-the number of copies and the exact sequence content of each copy of a gene. Although many clinically and functionally important genes are highly polymorphic and have undergone structural alterations, no high-throughput sequencing data analysis tool has yet been designed to effectively solve the full allelic decomposition problem. Here we introduce a combinatorial optimization framework that successfully resolves this challenging problem, including for genes with structural alterations. We provide an associated computational tool Aldy that performs allelic decomposition of highly polymorphic, multi-copy genes through using whole or targeted genome sequencing data. For a large divers

SUBMITTER: Numanagic I 

PROVIDER: S-EPMC5826927 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature