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Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

Whole-genome sequencing methods in familial cancer are useful to unravel rare clinically important cancer predisposing variants. Here, we present improvements in our pedigree-based familial cancer variant prioritization pipeline referred as FCVPPv2, including 12 tools for evaluating deleteriousness...

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Detalles Bibliográficos
Autores principales: Kumar, Abhishek, Bandapalli, Obul Reddy, Paramasivam, Nagarajan, Giangiobbe, Sara, Diquigiovanni, Chiara, Bonora, Elena, Eils, Roland, Schlesner, Matthias, Hemminki, Kari, Försti, Asta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072708/
https://www.ncbi.nlm.nih.gov/pubmed/30072699
http://dx.doi.org/10.1038/s41598-018-29952-z