TY - JOUR
T1 - Haplotype-resolved genome sequencing
T2 - Experimental methods and applications
AU - Snyder, Matthew W.
AU - Adey, Andrew
AU - Kitzman, Jacob O.
AU - Shendure, Jay
N1 - Publisher Copyright:
© 2015 Macmillan Publishers Limited. All rights reserved.
PY - 2015/5/18
Y1 - 2015/5/18
N2 - 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.
AB - 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.
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U2 - 10.1038/nrg3903
DO - 10.1038/nrg3903
M3 - Review article
C2 - 25948246
AN - SCOPUS:84929508843
SN - 1471-0056
VL - 16
SP - 344
EP - 358
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 6
ER -