期刊
NATURE BIOTECHNOLOGY
卷 29, 期 1, 页码 59-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nbt.1740
关键词
-
资金
- National Institutes of Health [AG039173, HG002385]
- National Science Foundation
- Natural Sciences and Engineering Research Council of Canada
- Achievement Rewards for College Scientists Foundation
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG002385] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [F30AG039173] Funding Source: NIH RePORTER
Haplotype information is essential to the complete description and interpretation of genomes(1), genetic diversity(2) and genetic ancestry(3). Although individual human genome sequencing is increasingly routine(4), nearly all such genomes are unresolved with respect to haplotype. Here we combine the throughput of massively parallel sequencing(5) with the contiguity information provided by large-insert cloning(6) 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 similar to 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(7,8) to specific locations and haplotypes.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据