HapFABIA: identification of very short segments of identity by descent characterized by rare variants in large sequencing data.

ABSTRACT: Identity by descent (IBD) can be reliably detected for long shared DNA segments, which are found in related individuals. However, many studies contain cohorts of unrelated individuals that share only short IBD segments. New sequencing technologies facilitate identification of short IBD segments through rare variants, which convey more information on IBD than common variants. Current IBD detection methods, however, are not designed to use rare variants for the detection of short IBD segments. Short IBD segments reveal genetic structures at high resolution. Therefore, they can help to improve imputation and phasing, to increase genotyping accuracy for low-coverage sequencing and to increase the power of association studies. Since short IBD segments are further assumed to be old, they can she

SUBMITTER: Hochreiter S 

PROVIDER: S-EPMC3905877 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature