Targeted short read sequencing and assembly of re-arrangements and candidate gene loci provide megabase diplotypes.

ABSTRACT: The human genome is composed of two haplotypes, otherwise called diplotypes, which denote phased polymorphisms and structural variations (SVs) that are derived from both parents. Diplotypes place genetic variants in the context of cis-related variants from a diploid genome. As a result, they provide valuable information about hereditary transmission, context of SV, regulation of gene expression and other features which are informative for understanding human genetics. Successful diplotyping with short read whole genome sequencing generally requires either a large population or parent-child trio samples. To overcome these limitations, we developed a targeted sequencing method for generating megabase (Mb)-scale haplotypes with short reads. One selects specific 0.1-0.2 Mb high molecular weigh

SUBMITTER: Shin G 

PROVIDER: S-EPMC6821272 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature