Article (Scientific journals)
Chromosomal haplotypes by genetic phasing of human families
Roach, Jared C.; Glusman, Gustavo; Hubley, Robert et al.
2011In American Journal of Human Genetics, 89 (3), p. 382-397
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Abstract :
[en] Assignment of alleles to haplotypes for nearly all the variants on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children. Whole-genome sequence data enable deterministic phasing of nearly all sequenced alleles by permitting assignment of recombinations to precise chromosomal positions and specific meioses. We demonstrate this process of genetic phasing on two families each with four children. We generate haplotypes for all of the children and their parents; these haplotypes span all genotyped positions, including rare variants. Misassignments of phase between variants (switch errors) are nearly absent. Our algorithm can also produce multimegabase haplotypes for nuclear families with just two children and can handle families with missing individuals. We implement our algorithm in a suite of software scripts (Haploscribe). Haplotypes and family genome sequences will become increasingly important for personalized medicine and for fundamental biology.
Research center :
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
Disciplines :
Life sciences: Multidisciplinary, general & others
Identifiers :
UNILU:UL-ARTICLE-2011-436
Author, co-author :
Roach, Jared C.;  Institute for Systems Biology
Glusman, Gustavo
Hubley, Robert
Montsaroff, Stephen Z.
Holloway, Alisha K.
Mauldin, Denise E.
Srivastava, Deepak
Garg, Vidu
Pollard, Katherine S.
GALAS, David J. ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) ; Institute for Systems Biology
HOOD, Leroy ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) ; Institute for Systems Biology
Smit, Arian F. A.
External co-authors :
yes
Language :
English
Title :
Chromosomal haplotypes by genetic phasing of human families
Publication date :
18 August 2011
Journal title :
American Journal of Human Genetics
ISSN :
1537-6605
Publisher :
Cell Press
Volume :
89
Issue :
3
Pages :
382-397
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBilu :
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