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

Rinki Ratna Priya; Harsha Karur Rajasimha; Matthew J Brooks; Anand Swaroop

doi:10.1007/978-1-61779-848-1_24

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

Methods Mol Biol. 2012:884:335-51. doi: 10.1007/978-1-61779-848-1_24.

Authors

Rinki Ratna Priya¹, Harsha Karur Rajasimha, Matthew J Brooks, Anand Swaroop

Affiliation

¹ Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

PMID: 22688718
DOI: 10.1007/978-1-61779-848-1_24

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.

Publication types

Research Support, N.I.H., Intramural

MeSH terms

Exome*
Genetic Association Studies
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing / methods*
Humans
Open Reading Frames*
Quality Control
Sequence Analysis, DNA / methods*

Grants and funding

Intramural NIH HHS/United States