GenomicsbioRxiv
Identification of misclassified ClinVar variants using disease population prevalence
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu…·Amalio Telenti
The paper identifies misclassified variants in ClinVar by analyzing population prevalence and genetic risk patterns in whole genome sequencing data.
DOI 10.1016/j.ajhg.2018.02.019