FunctionalOMICs is an open access online resource created as part of the “Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes” study by Smirnov et al., led by Dr. Holger Prokisch at the Technical University of Munich.
According to the ACMG/AMP guidelines, genetic variants with a certainty of pathogenicity greater than 90% should be considered as likely pathogenic. This concept was further extended by Tavtigian et al. 2018 by defining 99% certainty for pathogenic variants and by implementation of ACMG/AMP guidelines as a Bayessian framework. In line with this, Brnich et al. 2019 suggested estimating the magnitude of evidence strength that is appropriate for a given functional assay by calculating the odds of pathogenicity (OddsPath).
Based on the analysis of available data, and the framework developed by Brnich et al. 2019, we propose the best practice in the interpretation of RNA-seq analysis data in the context of ACMG/AMP guidelines.
This repository will be later extended to other functional assays including proteomics, Seahorse, gene-specific enzyme assays.
Contact: dmitrii.smirnov@helmholtz-muenchen.de or prokisch@helmholtz-muenchen.de.