Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Abstract excerpt

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...

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