Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.
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.
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。