mcpbeat

Bio Clinical Databases Variant Prioritization

biotender-max/bio-clinical-databases-variant-prioritization

Prioritizes rare-disease variants from trio/quad WES/WGS with de novo (DeNovoGear, Triodenovo), compound-heterozygous phasing (WhatsHap), mosaic VAF tiering, phenotype-driven ranking (Exomiser, Phen2Gene, AMELIE), ClinGen gene-disease validity gating, and ACMG SF v3.2 secondary findings reporting. Use when running diagnostic exome / genome pipelines, identifying candidate Mendelian disease genes, screening for incidental findings, or auditing VUS reclassification cycles. The ACMG/AMP classification framework (PVS1 decision tree, Pejaver PP3/BP4 calibration, Tavtigian point system) is in clinical-databases/acmg-classification.

10k tokens
context cost
the whole folder, loaded on every use
3
files
ships runnable scripts
0
copies elsewhere
how many repositories repackaged it
132
stars on the repo
on the repository, not the skill itself

Install

one command, takes just this skill from the repository 
npx skills add https://github.com/BioTender-max/awesome-bio-agent-skills --skill bio-clinical-databases-variant-prioritization

How to use it

Copy the folder

Take biotender-max/bio-clinical-databases-variant-prioritization from the repository into ~/.claude/skills for personal use, or into .claude/skills inside a project.

Check the name does not clash

The agent identifies a skill by the name field in its header. Two skills with the same name cannot sit side by side — one of them will be ignored.