Article

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

2023-08-24

Abstract excerpt

<h4>Purpose</h4> The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Broadening the evidence of the PS1 and PM5 criteria has the potential to increase conclusive variant interpretation. <h4>Methods</h4> We hypothesized that incorporation of pathogenic missense variants in conserved residues across paralogous genes can increase the number of variants w...

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Literature Corpus work: fe93426c-cf27-5ef1-9caa-9069984f4652
DOI: 10.1101/2023.08.22.23294353

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