Articles with "actionability genes" as a keyword



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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23158506

Abstract: The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses,… read more here.

Keywords: actionability; objective evaluation; involved myopathies; actionability genes ... See more keywords