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Published in 2018 at "Human molecular genetics"
DOI: 10.1093/hmg/ddy088
Abstract: While tens of thousands of pathogenic variants are used to inform the many clinical applications of genomics, there remains limited information on quantitative disease risk for the majority of variants used in clinical practice. At…
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Keywords:
machine;
machine learning;
biomedical informatics;
clinical genomics ... See more keywords