Towards Analyzing the Reclassification Dynamics of ClinVar Variants
Andreas Ruscheinski, Anna Lena Reimler, Roland Ewald, Adelinde M. Uhrmacher
The paper analyzes how variant classifications in ClinVar change over time using discrete-time Markov chains to model reclassification dynamics between releases.
bioRxiv · Jan 24, 2023 · PreprintBioinformatics