Article
Episignature analysis of moderate effects and mosaics.
European journal of human genetics : EJHG - 1 Sept 2023
Oexle Konrad, Zech Michael, Stühn Lara G, Siegert Sandy, Brunet Theresa, Schmidt Wolfgang M, Wagner Matias, Schmidt Axel, Engels Hartmut, Tilch Erik, Monestier Olivier, Destrėe Anne, Hanker Britta, Boesch Sylvia, Jech Robert, Berutti Riccardo, Kaiser Frank, Haslinger Bernhard, Haack Tobias B, Garavaglia Barbara, Krawitz Peter, Winkelmann Juliane, Mirza-Schreiber Nazanin
Abstract excerpt
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 of mosaics as a function of their degree of mosaicism...
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