Haplotype-resolved genome sequencing of a Gujarati Indian individual.

ABSTRACT: Haplotype information is essential to the complete description and interpretation of genomes, genetic diversity and genetic ancestry. Although individual human genome sequencing is increasingly routine, nearly all such genomes are unresolved with respect to haplotype. Here we combine the throughput of massively parallel sequencing with the contiguity information provided by large-insert cloning to experimentally determine the haplotype-resolved genome of a South Asian individual. A single fosmid library was split into a modest number of pools, each providing ∼3% physical coverage of the diploid genome. Sequencing of each pool yielded reads overwhelmingly derived from only one homologous chromosome at any given location. These data were combined with whole-genome shotgun sequence to directl

SUBMITTER: Kitzman JO 

PROVIDER: S-EPMC3116788 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature