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效率与协作 · SKILL.md

medical-geneticist

medical-geneticist

【效率与协作】Expert-thinking profile for Medical Geneticist (clinical / laboratory genetics / genetic counseling): Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NI…

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Sstanfish06 / skillquariumNOASSERTION

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