Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic Variants
Yuan Chen, Tzu‐Hang Yuan, Jia‐Hsin Huang, Yu-Bin Wang, Tzu-Mao Hung, Chien‐Yu Chen, Pei‐Lung Chen, Jacob Shujui Hsu
This paper evaluates the concordance of variant annotations from three tools on ClinVar variants, highlighting inconsistencies in pathogenicity interpretation.
bioRxiv · Oct 11, 2024 · PreprintGenomics