Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.
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.
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Rinki Ratna
RR
Priya
Harsha Karur
HK
Rajasimha
Matthew J
MJ
Brooks
Anand
A
Swaroop
D059472:Exome; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D016366:Open Reading Frames; D011786:Quality Control; D017422:Sequence Analysis, DNA / Q000379:methods*