Article

Clinical concordance evaluation of the causality of sequence variants

2023-09-18

Abstract excerpt

<title>Abstract</title> <p> Interpreting sequence variants is a scientific challenge as well as a realistic task in clinical practice. The pathogenicity of a variant depends on not only its damage but also the genetic dependent quantity (GDQ, quantitative genetic function required for normal life) that differs in each gene but was not considered in previous protocols. We developed a clinical concordance evaluati...

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Literature Corpus work: e35a1e13-31d3-5127-846e-e2cd60423db0
DOI: 10.21203/rs.3.rs-3270536/v2

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