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Education · GPTomics/bioSkills

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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…

GPTomics/bioSkills1.2k2 repos~3kAutomated safety check: PassMIT1 mo ago
2

Detects cancer and infers tissue-of-origin from cfDNA methylation by choosing conversion chemistry (bisulfite vs EM-seq vs TAPS vs cfMeDIP), calling read-level methylation haplotypes rather than…

GPTomics/bioSkills1.2k1 repo~4.1kAutomated safety check: PassMIT1 mo ago