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Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):12-7. doi: 10.1073/pnas.1016725108. Epub 2010 Dec 15.

Completely phased genome sequencing through chromosome sorting.

Author information

  • 1Department of Statistics, Stanford University, Stanford, CA 94305-4065, USA.

Erratum in

  • Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):3190.

Abstract

The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development of personalized medicine. Because of the difficulty in obtaining long-range phase information, current sequencing methods are unable to provide this information. Here, we introduce and show feasibility of a scalable approach capable of generating genomic sequences completely phased across the entire chromosome.

PMID:
21169219
[PubMed - indexed for MEDLINE]
PMCID:
PMC3017199
Free PMC Article

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