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TAILVAR (Terminal codon Analysis and Improved prediction of Lengthened VARiants)

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Zenodo2024-12-19 更新2026-05-26 收录
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https://zenodo.org/doi/10.5281/zenodo.14512203
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This dataset includes relevant files for developing the TAILVAR score designed to assess the functional impact of stop-loss variants occurring at stop codons (TAA, TGA, TAG). TAILVAR is built using a Random Forest model that predicts the pathogenicity of stop-loss variants. By integrating a combination of in-silico prediction scores, transcript features, and protein context information, TAILVAR provides a score ranging from 0 to 1, indicating the probability of a variant being pathogenic. For more information, please visit https://github.com/dr-yoon/TAILVAR
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Zenodo
创建时间:
2024-12-19
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