Targeted enrichment of specific regions in the human genome by array hybridization.
Targeted enrichment of specific regions in the human genome by array hybridization.
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通过阵列杂交有针对性地富集人类基因组中的特定区域。
DOI：
10.1002/0471142905.hg1803s66
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发表时间：
2010
影响因子：
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通讯作者：
Shendure,Jay
中科院分区：
文献类型：
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作者：
Igartua,Catherine;Turner,EmilyH;Ng,SarahB;Hodges,Emily;Hannon,GregoryJ;Bhattacharjee,Arindam;Rieder,MarkJ;Nickerson,DeborahA;Shendure,Jay
虽然全基因组重测序仍然昂贵，但基因组分区提供了一种经济实惠的方法，可以将序列工作靶向高度感兴趣的区域。靶向捕获有几种竞争性方法;这些方法包括分子倒置探针、微滴分离多重PCR和阵列上或溶液中杂交捕获。通过阵列杂交富集人类外显子组已成功应用于精确定位孟德尔疾病的致病等位基因。本方案侧重于在Illumina平台上应用Agilent 1 M阵列进行杂交捕获和测序，尽管文库制备方法可适用于其他供应商的阵列平台和测序技术。方案Hum. Genet. 66：18.3.1 - 18.3.14 © 2010 by John Wiley & Sons，Inc.
While whole‐genome resequencing remains expensive, genomic partitioning provides an affordable means of targeting sequence efforts towards regions of high interest. There are several competitive methods for targeted capture; these include molecular inversion probes, microdroplet‐segregated multiplex PCR, and on‐array or in‐solution capture‐by‐hybridization. Enrichment of the human exome by array hybridization has been successfully applied to pinpoint the causative allele of Mendelian disorders. This protocol focuses on the application of Agilent 1 M arrays for capture‐by‐hybridization and sequencing on the Illumina platform, although the library preparation method may be adaptable to other vendors' array platforms and sequencing technologies.Curr. Protoc. Hum. Genet. 66:18.3.1‐18.3.14 © 2010 by John Wiley & Sons, Inc.