Variant Classification Discordance

An ever-growing catalog of human variants is hosted in the ClinVar database. In this database, submissions on a variant are combined into a multisubmitter record; and in the case of discordance in variant classification between submitters, the record is labeled as conflicting. We used ClinVar data to identify characteristics that would make variants more likely to be associated with the conflict class of variants. Furthermore, we used the Extreme Gradient Boosting algorithm to train classifier models to provide prediction of classification discordance for single submission variants in ClinVar database.

Source: Journal of Molecular Diagnostics - November 24, 2023 Category: Pathology Authors: Hamid Ghaedi, Scott K. Davey, Harriet Feilotter Tags: Regular article Source Type: research