Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data-Reference-Cited by-同舟云学术

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

Published:2013-04-29 Issue:7 Volume:34 Page:945-952
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Carr Ian M.¹,Morgan Joanne¹,Watson Christopher¹,Melnik Svitlana²,Diggle Christine P.¹,Logan Clare V.¹,Harrison Sally M.¹,Taylor Graham R.¹,Pena Sergio D.J.³,Markham Alexander F.¹⁴,Alkuraya Fowzan S.⁵,Black Graeme C.M.⁶,Ali Manir¹,Bonthron David T.¹

Affiliation:

1. School of Medicine; University of Leeds; Leeds United Kingdom

2. Division of Molecular Biology of the Cell II; German Cancer Research Center; Heidelberg Germany

3. Department of Biochemistry and Immunology; Universidade Federal de Minas Gerais and GENE - Nucleo de Genetica Medica; Belo Horizonte MG Brazil

4. NIHR Research Capability Programme; Richmond House; London United Kingdom

5. Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center; Riyad Saudi Arabia

6. Genetic Medicine Research Group, Manchester Biomedical Research Centre, Manchester Academic Health Sciences Centre; University of Manchester and Central Manchester Foundation Trust, St Mary's Hospital; Manchester United Kingdom

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22322/fullpdf

Reference25 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus;Aldahmesh;Hum Mutat.,2012

3. Basic local alignment search tool;Altschul;J Mol Biol,1990

4. Amino acid substitution matrices from an information theoretic perspective;Altschul;J Mol Biol,1991

5. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

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