BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

BRCA1 and BRCA2 (BRCA1/2) germline variants disrupting the DNA protective role of these genes increase the risk of hereditary breast and ovarian cancers. Correct identification of these variants then becomes clinically relevant, because it may increase the survival rates of the carriers. Unfortunate...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: Padilla, Natàlia, Moles-Fernández, Alejandro, Riera, Casandra, Montalban, Gemma, Özkan, Selen, Ootes, Lars, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, de la Cruz, Xavier
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2019
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744361/
https://ncbi.nlm.nih.gov/pubmed/31112341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23802
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