Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2011 Sep 27;12(11):745-55.
doi: 10.1038/nrg3031.

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J Bamshad  1 , Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure
Affiliations
Review

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J Bamshad et al. Nat Rev Genet. .

Abstract

Exome sequencing - the _targeted sequencing of the subset of the human genome that is protein coding - is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Over the past 2 years, experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders. Additionally, exome sequencing is being adapted to explore the extent to which rare alleles explain the heritability of complex diseases and health-related traits. These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.

PubMed Disclaimer

Comment in

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Genome Res. 2009 Jul;19(7):1316-23 - PubMed
    1. Circ Cardiovasc Genet. 2010 Dec;3(6):574-80 - PubMed
    1. PLoS Genet. 2009 Feb;5(2):e1000384 - PubMed
    1. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63 - PubMed
    1. Science. 2010 Nov 12;330(6006):903 - PubMed

Publication types

LinkOut - more resources

  NODES
Association 1
twitter 2