Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER-Reference-Cited by-同舟云学术

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Published:2015-08-20 Issue:10 Volume:36 Page:941-949
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chatzimichali Eleni A.¹,Brent Simon¹,Hutton Benjamin¹,Perrett Daniel¹,Wright Caroline F.¹,Bevan Andrew P.¹,Hurles Matthew E.¹,Firth Helen V.¹²,Swaminathan Ganesh J.¹

Affiliation:

1. Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SD United Kingdom

2. Cambridge University Department of Medical Genetics Addenbrooke's Hospital Cambridge CB2 2QQ United Kingdom

Funder

Wellcome Trust

Wellcome Trust Sanger Institute Funding

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22842

Reference36 articles.

1. A method and server for predicting damaging missense mutations

2. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

3. The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

4. Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

5. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

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