单倍型
基因组
遗传学
生物
霰弹枪测序
福斯密德
大规模并行测序
参考基因组
单倍型估计
全基因组测序
DNA测序
计算生物学
单核苷酸多态性
基因组学
结构变异
基因
基因型
作者
Jacob O. Kitzman,Alexandra P. MacKenzie,Andrew Adey,Joseph Hiatt,Rupali P Patwardhan,Peter H. Sudmant,Sarah Ng,Can Alkan,Ruolan Qiu,Evan E. Eichler,Jay Shendure
摘要
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.
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