Article

Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care

2022-05-16

Abstract excerpt

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, particularly those of “actionable” genes in diagnostic situations, involving specific treatment and/or management. In our project, we carried out an objective assessm...

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Literature Corpus work: c3f669ff-c7b6-50b5-99ba-e190e15e5b6b
DOI: 10.1101/2022.05.16.22275131

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