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Bio Clinical Databases Variant Prioritization

Agent skill
1 skill

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.

Install with
Claude CodeCodexCursorGitHub CopilotGemini CLI

Supported by the Atlas install prompt. Skill-specific requirements vary.

Skill stats

Skills1CategoryScience & researchStars0

About this skill

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.

Quick start

  1. Copy the install prompt. Use the green button above this README.
  2. Send it to your agent. Paste it into your coding agent’s chat and send.
  3. Review the setup. Your agent checks the skill’s instructions, requirements, and installation scope.
Review, license & listing details
Review the source before using this skill

This is an imported listing. We haven’t certified its safety, license, or compatibility. Skills may include executable scripts.

Automated security scan: Partial

Only SKILL.md was scanned. Supporting files and scripts were not checked. No safety grade has been assigned.

0 potential findings · Scanned 11/4/2026 · Scanner 0.2.1

Content SHA-256: ae8076be4d89b24e943256e75186bfc62fb0d68728418a81d86a00ce4d87841f

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About this listing

Category
Science & research
Reported license
Not specified
Listing language (estimated)
English
Review status
Not individually reviewed
Agent compatibility
Atlas installation supports Claude Code, Codex, and Cursor. Skill-specific dependencies and features are checked during setup.