Skip to content

README.md

Latest commit

 

History

History
15 lines (10 loc) · 1.05 KB

README.md

File metadata and controls

15 lines (10 loc) · 1.05 KB

ClinVar Variant Clinical Significance Classifications for SNVs and small indels (2015-Present)

This repository runs an automated pipeline for downloading, processing, and visualizing ClinVar (NCBI) variant data to track trends in clinical significance classifications over time. The page updates monthly using GitHub Actions.

ClinVar Trends

Variants of Uncertain Significance

The gray area representing VUS (Variants of Uncertain Significance) is the largest category across all years. It is also the fastest growing segment of submissions. This provides a fundamental challenge in clinical interpretation of genetic variants.

Data Filtering

  • Included: Single nucleotide variants (SNVs) and small (<50bp) insertions/deletions (indels)
  • Excluded: Large structural variants, copy number variants, and other complex genomic alterations

Data Availability

All ClinVar data used in this analysis is publicly available: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/