Exome sequencing makes medical genomics a reality.

Nature genetics ·Vol. 42 ·No. 1 ·2010-01-00 ·Pages 13-4

Biesecker LG

Abstract

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

MeSH Terms

Abnormalities, Multiple/genetics,pathology Dihydroorotate Dehydrogenase Exons/genetics Genetic Predisposition to Disease Genetics, Medical/methods Genomics/methods Humans Mandibulofacial Dysostosis/pathology Mutation Open Reading Frames/genetics Oxidoreductases Acting on CH-CH Group Donors/genetics Sequence Analysis, DNA/methods Syndrome

Chemicals

Dihydroorotate Dehydrogenase Oxidoreductases Acting on CH-CH Group Donors

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Biesecker Leslie G

References (4)

4 references, click to expand

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Nat Genet. 2002 Feb;30(2):143-4 PMID: 11788826
Targeted capture and massively parallel sequencing of 12 human exomes.
Nature. 2009 Sep 10;461(7261):272-6 PMID: 19684571
Exome sequencing identifies the cause of a mendelian disorder.
Nat Genet. 2010 Jan;42(1):30-5 PMID: 19915526
Positional cloning moves from perditional to traditional.
Nat Genet. 1995 Apr;9(4):347-50 PMID: 7795639

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1546-1718

DOI

10.1038/ng0110-13

Published

2010-01-00

Pages

13-4

Language

English

Region

United States

NLM ID

9216904

Subset

Corrections

CommentOn

PMID: 19915526

External Links

PubMed source DOI: 10.1038/ng0110-13 View journal details

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Exome sequencing makes medical genomics a reality.

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