Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing

Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability t...

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Bibliographic Details
Main Authors: Youbao Sha, J. Bryce Ortiz, Sara L. Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C. ElNaggar, Wenbo Xu
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
Hereditary cancer
Pathogenic variants
RNA sequencing
Variants of uncertain significance
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424010604
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