Clinical genomics, covering ACMG/AMP variant classification, ClinVar queries, and clinical reporting workflows.
/plugin marketplace add Pavel-Kravchenko/Bioinformatics
The exact command may vary by repository. Check the README on GitHub.
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| Type | Purpose | Typical Approach |
|---|---|---|
| Diagnostic | Identify cause of existing disease | WES/WGS or gene panels |
| Predictive | Assess future disease risk | Targeted testing |
| Carrier | Identify heterozygous carriers | Carrier panels |
| Pharmacogenomic | Guide drug selection/dosing | PGx panels |
| Prenatal/Newborn | Screen or diagnose fetus/newborn | cfDNA, targeted panels |
| So |
[Description truncada. Veja o README completo no GitHub.]
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