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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Veröffentlicht in:Hum Mutat
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang: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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