Identification of misclassified ClinVar variants using disease population prevalence
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, Eric Dec, Brad Perkins, C. Thomas Caskey, J. Craig Venter, Amalio Telenti
The paper identifies misclassified variants in ClinVar by analyzing population prevalence and genetic risk patterns in whole genome sequencing data.
bioRxiv · Sep 15, 2016Genomics