Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural spli...

Full description

Bibliographic Details
Main Authors: Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña, Gabriel Capellá, Marta Pineda, Ana Vega, Conxi Lázaro, Miguel de la Hoya, Orland Diez, Sara Gutiérrez-Enríquez
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Genetics
Subjects:
hereditary cancer genes
NGS of gene-panel
VUS classification
in silico tools
splicing
RNA alteration
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00366/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2018.00366/full

Similar Items