Article
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2022
DiStefano Marina T, 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
Abstract excerpt
PURPOSE: Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed. METHODS: The GenCC drafted...
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