Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the s...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: Carraro, Marco, Minervini, Giovanni, Giollo, Manuel, Bromberg, Yana, Capriotti, Emidio, Casadio, Rita, Dunbrack, Roland, Elefanti, Lisa, Fariselli, Pietro, Ferrari, Carlo, Gough, Julian, Katsonis, Panagiotis, Leonardi, Emanuela, Lichtarge, Olivier, Menin, Chiara, Martelli, Pier Luigi, Niroula, Abhishek, Pal, Lipika R., Repo, Susanna, Scaini, Maria Chiara, Vihinen, Mauno, Wei, Qiong, Xu, Qifang, Yang, Yuedong, Yin, Yizhou, Zaucha, Jan, Zhao, Huiying, Zhou, Yaoqi, Brenner, Steven E., Moult, John, Tosatto, Silvio C.E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561474/
https://ncbi.nlm.nih.gov/pubmed/28440912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23235
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