Priya Rinki Ratna, Rajasimha Harsha Karur, Brooks Matthew J, Swaroop Anand
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Methods Mol Biol. 2012;884:335-51. doi: 10.1007/978-1-61779-848-1_24.
In humans, protein-coding exons constitute 1.5-1.7% of the human genome. Targeted sequencing of all coding exons is termed as exome sequencing. This method enriches for coding sequences at a genome-wide scale from 3 μg of DNA in a hybridization capture. Exome analysis provides an excellent opportunity for high-throughput identification of disease-causing variations without the prior knowledge of linkage or association. A comprehensive landscape of coding variants could also offer valuable mechanistic insights into phenotypic heterogeneity and genetic epistasis.
在人类中，蛋白质编码外显子占人类基因组的1.5 - 1.7%。对所有编码外显子进行靶向测序被称为外显子组测序。这种方法通过杂交捕获从3μg DNA中在全基因组范围内富集编码序列。外显子组分析为高通量鉴定致病变异提供了绝佳机会，无需事先了解连锁或关联情况。编码变异的全面图谱还可为表型异质性和基因上位性提供有价值的机制性见解。
