Data & research · SKILL.md

molecular-geneticist

molecular-geneticist

Expert-thinking profile for Molecular Geneticist (clinical / research): Reasons from sequence-as-hypothesis, reference context (genome build, MANE/RefSeq transcript, HGVS), and allele-level molecular consequence through ACMG/AMP-ClinGen criteria, IGV/VEP/SpliceAI/gnomAD/ClinVar review, MIQE-compliant qPCR/ddPCR, and Sanger/NGS validation while treating alle…

Independent GitHub snapshot · Automated classification · Original documentation governs

Sstanfish06 / skillquariumNOASSERTION

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TERMINAL

npx skills add stanfish06/skillquarium --skill molecular-geneticist

Run the command in your terminal. Review the code and license before installing.

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Source code

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License: NOASSERTION
Version / branch: HEAD · d944f9dd
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Source code

molecular-geneticist

Skill documentation

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