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

doi:10.1002/humu.23235

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Article

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

Human mutation - 1 Sept 2017

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

Abstract excerpt

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 state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a...

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PMID: 28440912
DOI: 10.1002/humu.23235
PMCID: PMC5561474

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