Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

PURPOSE: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. METHODS: Forty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal c...

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Detalles Bibliográficos
Autores principales: Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579719/
https://www.ncbi.nlm.nih.gov/pubmed/30523343
http://dx.doi.org/10.1038/s41436-018-0373-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579719/
https://www.ncbi.nlm.nih.gov/pubmed/30523343
http://dx.doi.org/10.1038/s41436-018-0373-1

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