Proteogenomic, Epigenetic, and Clinical Implications of Recurrent Aberrant Splice Variants in Clear Cell Renal Cell Carcinoma

European Urology(2022)

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摘要
Aberrant splice variants provide a potentially rich source of novel pathogenic drivers and biomarkers. Using the example of clear cell renal cell carcinoma, we describe a robust and widely applicable pipeline to identify disease-specific aberrant splice variants and explore associations with underlying disease biology and clinical outcomes.
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关键词
Aberrant splicing,Clear cell renal cell carcinoma,Epigenetics,Proteomics
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