Completely phased genome sequencing through chromosome sorting

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Chromosomes, Human / genetics*
  • DNA Primers / genetics
  • Flow Cytometry
  • Genome, Human / genetics*
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA / methods*

Substances

  • DNA Primers