Towards Analyzing the Reclassification Dynamics of ClinVar Variants

Ruscheinski, Andreas and Reimler, Anna Lena and Ewald, Roland and Uhrmacher, Adelinde M. (2022) Towards Analyzing the Reclassification Dynamics of ClinVar Variants. In: CMSB 2022: 20th International Conference on Computational Methods in Systems Biology, 14-16 September 2022, Bucharest, Romania. Poster.

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ClinVar aggregates information about genetic variants and their relation to human diseases and forms a valuable resource for clinical diagnostics. The assessment of variants, e.g., as being benign or pathogenetic, changes over time. We collected variant classification histories of ClinVar releases and used those to derive discrete-time Markov chains to investigate the reclassification dynamics of variants in ClinVar in terms of transition probabilities between ClinVar releases and reclassifications.

Item Type: Conference or Workshop Item (Poster)