Tag: clinvar

All Skills Tools

Annotating ENCODE Regulatory Variants with ClinVar

Cross-reference ENCODE functional genomic elements with ClinVar clinical variant classifications to identify pathogenic variants in regulatory regions. This skill enables both forward annotation of ENCODE peaks and reverse analysis of ClinV…

ammawla/encode-toolkit encode clinvar genomics variant-annotation

tool ★ 34

Annotate ENCODE Variants with ClinVar Data

This tool facilitates the cross-referencing of ENCODE functional genomic elements with ClinVar variant classifications. It supports both forward analysis (identifying variants within peaks) and reverse analysis (using ENCODE context to expl…

ammawla/encode-toolkit clinvar encode variant-annotation genomics