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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…
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Keywords:
demag predicts;
clinically actionable;
predicts effects;
disease genes ... See more keywords