Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services...

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Detalles Bibliográficos
Autores principales: Harrison, Steven M., Dolinsky, Jill S., Knight Johnson, Amy E., Pesaran, Tina, Azzariti, Danielle R., Bale, Sherri, Chao, Elizabeth C., Das, Soma, Vincent, Lisa, Rehm, Heidi L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649/
https://www.ncbi.nlm.nih.gov/pubmed/28301460
http://dx.doi.org/10.1038/gim.2017.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649/
https://www.ncbi.nlm.nih.gov/pubmed/28301460
http://dx.doi.org/10.1038/gim.2017.14

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