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1. vcf-triage-cli vcf-triage-cli Public

   A minimal, test-backed CLI for germline variant triage. Filters single-sample VCFs by PASS/QUAL/DP/AF and heterozygous allele balance, extracts key VEP annotations (gene, consequence, HGVS), suppor…

   Python

2. exomiser-hpo-workflows exomiser-hpo-workflows Public

   Reproducible exomiser + HPO workflows to prioritise variants (demo HCM & epilepsy) with VEP VCFs and HTML/TSV outputs.

   Python

3. RareDisease_VariantPipeline RareDisease_VariantPipeline Public

   A simple example pipeline to filter, annotate, and prioritize rare genetic variants using bcftools and Ensembl VEP. This workflow demonstrates basic variant filtering, rare allele frequency selecti…

   Shell 1

4. DifferentialMethylation_GSE42861 DifferentialMethylation_GSE42861 Public

   Differential methylation analysis pipeline using Illumina 450k array data from GEO (GSE42861). Includes preprocessing, QC, normalization, limma-based DMP detection, annotation, and visualization (v…

   R