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

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Genet Med
Auteurs principaux: 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 US., 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, T Michael., Rehm, Heidi L.
Format: Artigo
Langue:Inglês
Publié: 2022
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7613247/
https://ncbi.nlm.nih.gov/pubmed/35507016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gim.2022.04.017
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires