An automatic classification tool for PVS1 interpretation of null variants
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Mar 4, 2024 - Python
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genetic-counseling
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My eventual digital home.
personal-site genetics personal-website personal-blog pkm zettelkasten digital-garden genetic-counseling personal-knowledge-management genetic-counselor lyt linking-your-thinking personal-knowledge-system
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Mar 4, 2023 - CSS
Guida interattiva al counseling prenatale per la sindrome di Klinefelter (47,XXY), basata su evidenze scientifiche. Single-page HTML con selezione interattiva dello scenario clinico.
clinical-decision-support nipt genetic-counseling klinefelter interactive-wizard prenatal-counseling 47-xxy sex-chromosome-aneuploidy anticipatory-guidance
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Mar 28, 2026 - HTML
Research tool for exploring carrier frequencies and recurrence risks for autosomal recessive conditions using gnomAD population data. For research use only.
calculator typescript pwa vue genetics vuetify vite genetic-counseling gnomad carrier-frequency clinical-genetics hardy-weinberg
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Jul 3, 2026 - TypeScript
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