Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
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Genome Medicine, 2025
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Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
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Clinical Lung Cancer, 2025
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
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Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6
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