Haplotype-resolved genome sequencing: Experimental methods and applications

Matthew W. Snyder, Andrew Adey, Jacob O. Kitzman, Jay Shendure

Research output: Contribution to journalReview article

77 Scopus citations

Abstract

Human genomes are diploid and, for their complete description and interpretation, it is necessary not only to discover the variation they contain but also to arrange it onto chromosomal haplotypes. Although whole-genome sequencing is becoming increasingly routine, nearly all such individual genomes are mostly unresolved with respect to haplotype, particularly for rare alleles, which remain poorly resolved by inferential methods. Here, we review emerging technologies for experimentally resolving (that is, 'phasing') haplotypes across individual whole-genome sequences. We also discuss computational methods relevant to their implementation, metrics for assessing their accuracy and completeness, and the relevance of haplotype information to applications of genome sequencing in research and clinical medicine.

Original languageEnglish (US)
Pages (from-to)344-358
Number of pages15
JournalNature Reviews Genetics
Volume16
Issue number6
DOIs
StatePublished - May 18 2015

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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