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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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| Publicat a: | Cold Spring Harb Mol Case Stud |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6824250/ https://ncbi.nlm.nih.gov/pubmed/31645350 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004739 |
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