Chapter title |
Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.
|
---|---|
Chapter number | 24 |
Book title |
Retinal Development
|
Published in |
Methods in molecular biology, June 2012
|
DOI | 10.1007/978-1-61779-848-1_24 |
Pubmed ID | |
Book ISBNs |
978-1-61779-847-4, 978-1-61779-848-1
|
Authors |
Priya RR, Rajasimha HK, Brooks MJ, Swaroop A, Rinki Ratna Priya, Harsha Karur Rajasimha, Matthew J. Brooks, Anand Swaroop, Priya, Rinki Ratna, Rajasimha, Harsha Karur, Brooks, Matthew J., Swaroop, Anand |
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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Medicine and Dentistry | 1 | 6% |
Other | 0 | 0% |
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