The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources-Reference-Cited by-同舟云学术

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Published:2022-08 Issue:8 Volume:24 Page:1732-1742
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

DiStefano Marina T.^ORCID,Goehringer Scott,Babb Lawrence,Alkuraya Fowzan S.,Amberger Joanna,Amin Mutaz,Austin-Tse Christina,Balzotti Marie,Berg Jonathan S.,Birney Ewan,Bocchini Carol,Bruford Elspeth A.,Coffey Alison J.,Collins Heather,Cunningham Fiona,Daugherty Louise C.,Einhorn Yaron,Firth Helen V.,Fitzpatrick David R.,Foulger Rebecca E.,Goldstein Jennifer,Hamosh Ada,Hurles Matthew R.,Leigh Sarah E.,Leong Ivone U.S.,Maddirevula Sateesh,Martin Christa L.,McDonagh Ellen M.,Olry Annie,Puzriakova Arina,Radtke Kelly,Ramos Erin M.,Rath Ana,Riggs Erin Rooney,Roberts Angharad M.,Rodwell Charlotte,Snow Catherine,Stark Zornitza,Tahiliani Jackie,Tweedie Susan,Ware James S.,Weller Phillip,Williams Eleanor,Wright Caroline F.,Yates Thabo Michael,Rehm Heidi L.^ORCID

Funder

Wellcome Trust

British Heart Foundation

NHMRC

NHGRI

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference21 articles.

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2. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet Med,2020