Abstract:
: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.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Roach JC,Glusman G,Hubley R,Montsaroff SZ,Holloway AK,Mauldin DE,Srivastava D,Garg V,Pollard KS,Galas DJ,Hood L,Smit AFdoi
10.1016/j.ajhg.2011.07.023subject
Has Abstractpub_date
2011-09-09 00:00:00pages
382-97issue
3eissn
0002-9297issn
1537-6605pii
S0002-9297(11)00318-1journal_volume
89pub_type
杂志文章abstract::Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees. There is evidence of genetic heterogeneity, with other pedigrees sh...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338658
更新日期:2002-02-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/430278
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/510686
更新日期:2007-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/380311
更新日期:2003-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1986-10-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/323480
更新日期:2001-10-01 00:00:00
abstract::Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is a hereditary disorder characterized by the incomplete vascularization of the peripheral retina. The primary biochemical defect in adFEVR is unknown. The adFEVR locus has tentatively been assigned to 11q by linkage studies. We report the results of an ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301743
更新日期:1998-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/382227
更新日期:2004-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339986
更新日期:2002-05-01 00:00:00
abstract::This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/381505
更新日期:2004-02-01 00:00:00
abstract::Band 3, the major transmembrane protein of erythrocytes, mediates the exchange of anions across the membrane and anchors the erythroid membrane skeleton. Proteins immunologically related to Band 3 have been detected in a variety of nonerythroid cells. We have isolated a human cDNA clone that encodes a protein related ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1986-09-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2018.11.002
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journal_title:American journal of human genetics
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doi:10.1016/j.ajhg.2014.12.013
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journal_title:American journal of human genetics
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doi:
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journal_title:American journal of human genetics
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更新日期:2014-05-01 00:00:00
abstract::Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutat...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2012.08.027
更新日期:2012-11-02 00:00:00
abstract::DNA length polymorphism in the 5'-flanking region of the human insulin gene has been reported by Bell et al. (1981), Rotwein et al. (1981), and Owerbach and Nerup (1982). Bgl I digestions of human DNA that have been hybridized to an insulin probe using the Southern technique shows that there are two distinct groups of...
journal_title:American journal of human genetics
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doi:
更新日期:1983-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2013.12.014
更新日期:2014-02-06 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2013.05.007
更新日期:2013-07-11 00:00:00
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journal_title:American journal of human genetics
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doi:
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journal_title:American journal of human genetics
pub_type: 杂志文章
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