The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded program founded 10 years ago that defines the clinical relevance of genes and variants for medical and research use. ClinGen working groups develop standards for data sharing and curating genomic knowledge. Expert panel...

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Veröffentlicht in:	Genetics in medicine 2025-01, Vol.27 (1), p.101228, Article 101228
Hauptverfasser:	Andersen, Erica F., Azzariti, Danielle R., Babb, Larry, Berg, Jonathan S., Biesecker, Leslie G., Bly, Zo, Buchanan, Adam H., DiStefano, Marina T., Gong, Li, Harrison, Steven M., Hunter, Jessica Ezzell, Kattman, Brandi, Klein, Teri E., Landrum, Melissa J., Manickam, Kandamurugu, Marroquin, Alessandra Serrano, Martin, Christa L., Milko, Laura V., Milosavljevic, Aleksandar, Morales, Joannella, Nelson, Tristan H., Plon, Sharon E., Powell, Bradford C., Ramos, Erin M., Rehm, Heidi L., Riggs, Erin R., Ritter, Deborah, Shah, Neethu, Thaxton, Courtney L., Thorland, Erik C., Weaver, Meredith A., Weller, Phillip L., Wright, Matt W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Actionability Clinical genetics Curation Data Curation Data sharing Databases, Genetic Dosage Genetic Variation Genome, Human Genomics - methods Humans Information Dissemination
Online-Zugang:	Volltext
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