A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight specific examples from the CDH1 and PTEN Variant Curat...

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Detalles Bibliográficos
Autores principales: Ritter, Deborah I., Rao, Shruti, Kulkarni, Shashikant, Madhavan, Subha, Offit, Kenneth, Plon, Sharon E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824250/
https://www.ncbi.nlm.nih.gov/pubmed/31645350
http://dx.doi.org/10.1101/mcs.a004739

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824250/
https://www.ncbi.nlm.nih.gov/pubmed/31645350
http://dx.doi.org/10.1101/mcs.a004739

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