Home LiteratureArticle Details
PMID: 20354513 Published · ppublish English Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.

Nature methods ·Vol. 7 ·No. 4 ·2010-04-00 ·Pages 250-1

Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA

Abstract

暂无摘要

MeSH Terms
Animals Evolution, Molecular Genetic Predisposition to Disease Genetic Variation Genome, Human Humans Models, Genetic Mutation
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Cooper Gregory M
Goode David L
Ng Sarah B
Sidow Arend
Bamshad Michael J
Shendure Jay
Nickerson Deborah A
References (6)
6 references, click to expand
  1. Prediction of deleterious human alleles.
    Hum Mol Genet. 2001 Mar 15;10(6):591-7 PMID: 11230178
  2. Targeted capture and massively parallel sequencing of 12 human exomes.
    Nature. 2009 Sep 10;461(7261):272-6 PMID: 19684571
  3. Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.
    Genome Res. 2010 Mar;20(3):301-10 PMID: 20067941
  4. Listening to silence and understanding nonsense: exonic mutations that affect splicing.
    Nat Rev Genet. 2002 Apr;3(4):285-98 PMID: 11967553
  5. Distribution and intensity of constraint in mammalian genomic sequence.
    Genome Res. 2005 Jul;15(7):901-13 PMID: 15965027
  6. Exome sequencing identifies the cause of a mendelian disorder.
    Nat Genet. 2010 Jan;42(1):30-5 PMID: 19915526
Article Info
Journal
Nature methods
Abbr.
Nat Methods
ISSN
1548-7105
DOI
10.1038/nmeth0410-250
Published
2010-04-00
Pages
250-1
Language
English
Region
United States
NLM ID
101215604
PMCID
PMC3145250
Subset
IM
Grants
NHGRI NIH HHS · 1R21 HG004749-01 · United States
NHLBI NIH HHS · R01 HL094976 · United States
NHLBI NIH HHS · U01 HL066682-01 · United States
NHLBI NIH HHS · U01 HL66682 · United States
NHLBI NIH HHS · 5R01 HL094976-02 · United States
NHGRI NIH HHS · R21 HG004749 · United States
NICHD NIH HHS · R01 HD048895 · United States
NHLBI NIH HHS · R01 HL094976-01 · United States
NHGRI NIH HHS · R21 HG004749-01 · United States
NICHD NIH HHS · 5R01 HD048895 · United States
NICHD NIH HHS · R01 HD048895-01 · United States
NHLBI NIH HHS · U01 HL066682 · United States
External Links
PubMed source DOI: 10.1038/nmeth0410-250 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2