New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene-Reference-Cited by-同舟云学术

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Published:2015-03-31 Issue:4 Volume:36 Page:425-431
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sobreira Nara¹,Schiettecatte François²,Boehm Corinne¹,Valle David¹³,Hamosh Ada¹³

Affiliation:

1. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland 21205

2. FS Consulting LLC; Salem Massachusetts 01970

3. Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland 21205

Funder

NHGRI

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®);Amberger;Hum Mutat,2011

2. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am J Hum Genet,2014

3. Rare-disease genetics in the era of next-generation sequencing: discovery to translation;Boycott;Nat Rev Genet,2013

4. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing;Green;Genet Med,2013

5. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome;Gripp;Am J Med Genet A,2015

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