VEP

Ensembl VEP (Variant Effect Predictor) — annotates genomic variants with gene, transcript, protein, and regulatory consequences using Ensembl's annotation framework. Supports VCF, HGVS, and genomic co

2 shared topics • 2 shared operations

M-CAP (Mendelian Clinically Applicable Pathogenicity) is a clinical-grade pathogenicity classifier for rare human missense variants. Developed at the Bejerano Lab (Stanford), it applies a gradient-boo

1 shared topic • 1 shared operation

Use when querying ClinGen — the Clinical Genome Resource — for expert-curated gene-disease validity classifications, variant pathogenicity interpretations, dosage sensitivity assessments, and clinical

1 shared topic

Use when detecting allele-specific expression (ASE) from RNA-seq data with MBASED, a Bioconductor R package using a meta-analysis-based beta-binomial model. Covers SNP-level and gene-level ASE, phased

1 shared topic