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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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
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Article
Online toegang: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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