cyanea/BRCA Variant Explorer
Running DemoInteractive browser for BRCA1/2 clinical variants with pathogenicity classification.
An interactive workspace for exploring BRCA1 and BRCA2 clinical variants. This space integrates ClinVar annotations, population frequency data from gnomAD, and in-silico pathogenicity predictions to provide a comprehensive view of each variant’s clinical significance.
Features
- Variant browser with filterable columns for gene, position, consequence, and classification
- Lollipop plots showing variant distribution across protein domains
- Automated pathogenicity scoring using ACMG/AMP criteria
- ClinVar concordance tracking with alerts for reclassified variants
Datasets included
This space links to curated BRCA1/2 variant datasets from ClinVar (v2024-01) and gnomAD v4.1 population frequencies, joined with functional assay results from published saturation genome editing experiments.
Contents
4 Notebooks
2 Datasets
1 Protocol