Article

Towards Analyzing the Reclassification Dynamics of ClinVar Variants

2023-01-25

Abstract excerpt

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 ClinV...

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Literature Corpus work: 8aaf48ba-ed30-5c58-a4ca-37ac8b4c559c
DOI: 10.1101/2023.01.24.525342

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