Exome sequencing as a tool for Mendelian disease gene discovery

doi:10.1038/nrg3031

Review

. 2011 Sep 27;12(11):745-55.

doi: 10.1038/nrg3031.

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J Bamshad¹, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure

Affiliations

Affiliation

¹ Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195-6320, USA. mbamshad@u.washington.edu

PMID: 21946919
DOI: 10.1038/nrg3031

Review

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J Bamshad et al. Nat Rev Genet. 2011.

. 2011 Sep 27;12(11):745-55.

doi: 10.1038/nrg3031.

Authors

Michael J Bamshad¹, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure

Affiliation

¹ Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195-6320, USA. mbamshad@u.washington.edu

PMID: 21946919
DOI: 10.1038/nrg3031

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.

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Comment in

Human disease: Huge boost for genetics of cognitive disorders.
Casci T. Casci T. Nat Rev Genet. 2011 Sep 27;12(11):743. doi: 10.1038/nrg3085. Nat Rev Genet. 2011. PMID: 21946921 No abstract available.

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[1] Genome Res. 2009 Jul;19(7):1316-23 - PubMed

[2] Genome Res. 2009 Jul;19(7):1316-23 - PubMed

[3] Circ Cardiovasc Genet. 2010 Dec;3(6):574-80 - PubMed

[4] Circ Cardiovasc Genet. 2010 Dec;3(6):574-80 - PubMed

[5] PLoS Genet. 2009 Feb;5(2):e1000384 - PubMed

[6] PLoS Genet. 2009 Feb;5(2):e1000384 - PubMed

[7] Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63 - PubMed

[8] Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63 - PubMed

[9] Science. 2010 Nov 12;330(6006):903 - PubMed

[10] Science. 2010 Nov 12;330(6006):903 - PubMed

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Exome sequencing as a tool for Mendelian disease gene discovery

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Exome sequencing as a tool for Mendelian disease gene discovery

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