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Haplotype-resolved genome sequencing of a Gujarati Indian individual

Nature biotechnology, 2011-01, Vol.29 (1), p.59-63 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2011 ;2011 Nature America, Inc. All rights reserved. 2011 ;ISSN: 1087-0156 ;EISSN: 1546-1696 ;DOI: 10.1038/nbt.1740 ;PMID: 21170042 ;CODEN: NABIF9

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Title:
Haplotype-resolved genome sequencing of a Gujarati Indian individual
Author: Kitzman, Jacob O ; Shendure, Jay ; MacKenzie, Alexandra P ; Adey, Andrew ; Hiatt, Joseph B ; Patwardhan, Rupali P ; Sudmant, Peter H ; Ng, Sarah B ; Alkan, Can ; Qiu, Ruolan ; Eichler, Evan E
Subjects: Analysis ; Asian people ; Asians - genetics ; Base Sequence ; Biological and medical sciences ; Biotechnology ; Cell Line ; Chromosomes ; Diverse techniques ; DNA sequencing ; Fundamental and applied biological sciences. Psychology ; Genetic aspects ; Genetic polymorphisms ; Genome, Human - genetics ; Genomes ; Genomics ; Haplotypes ; Haplotypes - genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing - methods ; Human genome ; Humans ; Identification and classification ; Innovations ; Methods ; Models, Molecular ; Molecular and cellular biology ; Multiprocessing ; Novels ; Nucleotide sequencing ; Polymorphism, Single Nucleotide - genetics ; Sequence Analysis, DNA - methods ; Single nucleotide polymorphisms
Is Part Of: Nature biotechnology, 2011-01, Vol.29 (1), p.59-63
Description: Haplotype information is essential to the complete description and interpretation of genomes, genetic diversity and genetic ancestry. Although individual human genome sequencing is increasingly routine, nearly all such genomes are unresolved with respect to haplotype. Here we combine the throughput of massively parallel sequencing with the contiguity information provided by large-insert cloning to experimentally determine the haplotype-resolved genome of a South Asian individual. A single fosmid library was split into a modest number of pools, each providing ∼3% physical coverage of the diploid genome. Sequencing of each pool yielded reads overwhelmingly derived from only one homologous chromosome at any given location. These data were combined with whole-genome shotgun sequence to directly phase 94% of ascertained heterozygous single nucleotide polymorphisms (SNPs) into long haplotype blocks (N50 of 386 kilobases (kbp)). This method also facilitates the analysis of structural variation, for example, to anchor novel insertions to specific locations and haplotypes.
Publisher: New York, NY: Nature Publishing Group
Language: English
Identifier: ISSN: 1087-0156
EISSN: 1546-1696
DOI: 10.1038/nbt.1740
PMID: 21170042
CODEN: NABIF9
Source: GFMER Free Medical Journals
MEDLINE
ProQuest Central

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Haplotype-resolved genome sequencing of a Gujarati Indian individual

2015 INIST-CNRS ;COPYRIGHT 2011 Nature Publishing Group ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2011 ;2011 Nature America, Inc. All rights reserved. 2011 ;ISSN: 1087-0156 ;EISSN: 1546-1696 ;DOI: 10.1038/nbt.1740 ;PMID: 21170042 ;CODEN: NABIF9

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