ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data-Reference-Cited by-同舟云学术

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

Published:2018-06-21 Issue:8 Volume:39 Page:1051-1060
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Henrie Alex¹,Hemphill Sarah E.²,Ruiz-Schultz Nicole¹,Cushman Brandon²,DiStefano Marina T.²,Azzariti Danielle²,Harrison Steven M.²,Rehm Heidi L.²³^ORCID,Eilbeck Karen¹^ORCID

Affiliation:

1. Department of Biomedical Informatics; University of Utah School of Medicine; Salt Lake City Utah

2. Laboratory for Molecular Medicine; Partners Healthcare Personalized Medicine; Cambridge Massachusetts

3. Department of Pathology; Brigham & Women's Hospital, Harvard Medical School; Boston Massachusetts

Funder

U.S. National Library of Medicine

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23555/fullpdf

Reference17 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Research,2015

2. ClinGen Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance https://www.clinicalgenome.org/lablist/

3. Reassessment of genomic sequence variation to harmonize interpretation for personalized medicine;Garber;American Journal of Human Genetics,2016

4. Clinical variant classification: A comparison of public databases and a commercial testing laboratory;Gradishar;The Oncologist,2017

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