Article

Episignature analysis of moderate effects and mosaics

2023-02-02

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> DNA methylation classifiers (“episignatures”) help to determine the pathogenicity of variants of uncertain significance (VUS). However, their sensitivity is limited due to their training on unambiguous cases with strong-effect variants so that the classification of variants with reduced effect size or in mosaic state may fail. Moreover, episignature evaluation o...

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Literature Corpus work: b4fe2c32-730b-5968-aed5-7f5a1bd36453
DOI: 10.21203/rs.3.rs-2530607/v1

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