Beatriz Gomes-Silva
A5064165872- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- RNA modifications and cancer
- Genomics and Rare Diseases
Institute for Molecular Medicine
2025
University of Manchester
2019-2021
The development of computational methods to assess pathogenicity pre-messenger RNA splicing variants is critical for diagnosis human disease. We assessed the capability eight algorithms, and a consensus approach, prioritize 249 uncertain significance (VUSs) that underwent functional analyses. algorithms differentiate VUSs away from immediate splice site as being 'pathogenic' or 'benign' likely have substantial impact on diagnostic testing. show SpliceAI best single strategy in this regard,...
Cardiomyocytes differentiated in vitro from human induced pluripotent stem cells (iPSC-CMs) are increasingly used studies of disease mechanisms, drug development, toxicity testing, and regenerative medicine. Alternative splicing (AS), a crucial mechanism for regulating gene expression during plays pivotal role cardiac differentiation maturation. However, the extent to which iPSC-CMs recapitulate native patterns remains poorly understood. Here, we provide comprehensive temporal map AS...
Abstract Purpose To develop a comprehensive analysis framework to identify pre-messenger RNA splicing mutations in the context of rare disease. Methods We assessed ‘variants uncertain significance’ through six in-silico prioritization strategies. Firstly, comparison functional analyses, we determined precise effect on variants identified clinical multi-disciplinary meetings. Next, calculated sensitivity strategies distinguish known from common variation (>2% allele frequency gnomAD)...
Abstract The development of computational methods to assess pathogenicity pre-messenger RNA splicing variants is critical for diagnosis human disease. We assessed the capability eight algorithms, and a consensus approach, prioritize 250 uncertain significance (VUSs) that underwent functional analyses. It algorithms differentiate VUSs away from immediate splice site as being ‘pathogenic’ or ‘benign’ likely have most substantial impact on diagnostic testing. show SpliceAI best single strategy...