Journal
NATURE METHODS
Volume 6, Issue 3, Pages 199-201Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/NMETH.1301
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Funding
- US National Human Genome Research Institute [R01-HG01720]
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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.
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