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溶液中捕获全外显子组,数据量 30 亿位。

Whole exome capture in solution with 3 Gbp of data.

机构信息

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

出版信息

Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.

DOI:10.1186/gb-2010-11-6-r62
PMID:20565776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2911110/
Abstract

We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95% of all expected heterozygous singe base variants, requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies.

摘要

我们开发了一种基于溶液的靶向 DNA 捕获测序方法,该方法针对人类外显子组的全部区域。采用这种方法可以发现超过 95%的所有预期杂合单碱基变异,仅需 3 Gbp 的原始序列数据,是在大规模基因组研究中鉴定稀有编码等位基因的有效工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/dba79cba6c0b/gb-2010-11-6-r62-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/28d1e013c689/gb-2010-11-6-r62-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/a8706f7efdae/gb-2010-11-6-r62-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/dba79cba6c0b/gb-2010-11-6-r62-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/28d1e013c689/gb-2010-11-6-r62-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/a8706f7efdae/gb-2010-11-6-r62-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39a6/2911110/dba79cba6c0b/gb-2010-11-6-r62-3.jpg

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.全外显子捕获和大规模平行 DNA 测序的基因诊断。
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