Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

The contribution of deep intronic splice-altering variants to hereditary breast and ovarian cancer (HBOC) is unknown. Current computational in silico tools to predict spliceogenic variants leading to pseudoexons have limited efficiency. We assessed the performance of the SpliceAI tool combined with...

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Bibliographic Details
Main Authors: Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Cancers
Subjects:
spliceogenic deep intronic variants
pseudoexons
cryptic splice sites
splicing regulatory elements
hereditary breast ovarian cancer
in silico prediction tools
Online Access:https://www.mdpi.com/2072-6694/13/13/3341

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