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Article

Direct chromosome-length haplotyping by single-cell sequencing.

Genome research - 1 Nov 2016

Porubský David, Sanders Ashley D, van Wietmarschen Niek, Falconer Ester, Hills Mark, Spierings Diana C J, Bevova Marianna R, Guryev Victor, Lansdorp Peter M

Abstract excerpt

Haplotypes are fundamental to fully characterize the diploid genome of an individual, yet methods to directly chart the unique genetic makeup of each parental chromosome are lacking. Here we introduce single-cell DNA template strand sequencing (Strand-seq) as a novel approach to phasing diploid genomes along the entire length of all chromosomes. We demonstrate this by building a complete haplotype for a HapMap...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27646535
DOI: 10.1101/gr.209841.116
PMCID: PMC5088598

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