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Direct determination of haplotypes from single DNA molecules.

ABSTRACT: Determining the long-range haplotypes in a diploid individual is a major technical challenge. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual human DNA molecules simultaneously. We demonstrate the utility of this technology by accurately determining the haplotypes consisting of up to 16 single-nucleotide polymorphisms in genomic regions up to 50 kilobases.

SUBMITTER: Xiao M

PROVIDER: S-EPMC3880790 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature

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Direct determination of haplotypes from single DNA molecules.

Xiao Ming M Wan Eunice E Chu Catherine C Hsueh Wen-Chi WC Cao Yang Y Kwok Pui-Yan PY

Nature methods 20090208 3

Determining the long-range haplotypes in a diploid individual is a major technical challenge. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual human DNA molecules simultaneously. We demonstrate the utility of this technology by accurately determining the haplotypes consisting of up to 16 single-nucleotide polymorphisms in genomic regions up to 50 kilobases. ...[more]

PMID: 19198595

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