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Direct determination of haplotypes from single DNA molecules
Ming Xiao1,5, Eunice Wan1, Catherine Chu1, Wen-Chi Hsueh2,3, Yang Cao1 & Pui-Yan Kwok1,3,4
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.
Cardiovascular Research Institute, University of California, San Francisco, 513 Parnassus Ave., San Francisco, California 94143, USA.
Department of Medicine, University of California, San Francisco, 513 Parnassus Ave., San Francisco, California 94143, USA.
Institute for Human Genetics, University of California, San Francisco, 513 Parnassus Ave., San Francisco, California 94143, USA.
Department of Dermatology, University of California, San Francisco, 513 Parnassus Ave., San Francisco, California 94143, USA.
Present address: BioNanomatrix, Inc., 3701 Market Street, Philadelphia, Pennsylvania 19104, USA.