The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification-Reference-Cited by-同舟云学术

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

Published:2017-01-11 Issue:3 Volume:38 Page:252-259
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nishio Shin-ya¹,Usami Shin-ichi¹

Affiliation:

1. Department of Otorhinolaryngology; Shinshu University School of Medicine; Matsumoto City Japan

Funder

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

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3. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23;Bork;Am J Hum Genet,2001

4. wANNOVAR: Annotating genetic variants for personal genomes via the web;Chang;J Med Genet,2012

5. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants;Fu;Nature,2013

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