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Annotsv

SkillHealthcare & Life Sciences

Germline CNV Interpretation

Classify constitutional (germline) copy number variants for clinical reporting using the 2019 ACMG/ClinGen technical standards points-based framework, with ClassifyCNV and AnnotSV for semi-automated scoring. Covers the separate copy-number-loss and copy-number-gain rubrics, the five-tier classifi...

✳Claude Code>_Codex◈OpenClaw+1

Clinical Research Health Informatics

By GPTomicsOriginal project

MIT · FreeView skill

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AI prompts andagent skills.

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Germline CNV Interpretation

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