Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery
RR Priya, HK Rajasimha, MJ Brooks… - … : Methods and Protocols, 2012 - Springer
Retinal Development: Methods and Protocols, 2012•Springer
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 …
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 …
Abstract
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.
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