DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1101/2022.06.15.496230
Abstract: Interpretation of rare genetic variants remains challenging. Here, the authors develop a supervised variant effect predictor for use in clinically actionable genes which incorporates evolutionary and structural relationships between residues and has balanced specificity and… read more here.
Keywords: demag predicts; clinically actionable; predicts effects; disease genes ... See more keywords
Gene Signature for Sorafenib Susceptibility in Hepatocellular Carcinoma: Different Approach with a Predictive Biomarker
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DOI: 10.1159/000504548
Abstract: Background/Aim: Uniform treatment of hepatocellular carcinoma (HCC) with molecular targeted drugs (e.g., sorafenib) results in a poor overall tumor response when tumor subtyping is absent. Patient stratification based on actionable gene expression is a method… read more here.
Keywords: hepatocellular carcinoma; actionable genes; response; tumor response ... See more keywords
Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase
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DOI: 10.18632/oncotarget.28021
Abstract: Introduction: Treatment options for biliary tract cancer (BTC) are very limited. It is necessary to investigate actionable genes and candidate drugs using a sophisticated knowledgebase (KB) and characterize BTCs immunologically for evaluating the actionability of… read more here.
Keywords: actionability; actionable genes; biliary tract; candidate drugs ... See more keywords
Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes
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DOI: 10.3390/genes13010117
Abstract: Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and… read more here.
Keywords: precision medicine; actionable genes; role actionable; monogenic diabetes ... See more keywords