A research-oriented, transparent, and extensible variant interpretation pipeline implementing ACMG/AMP 2015 & 2023 guidelines.
-
Updated
Dec 24, 2025 - Python
A research-oriented, transparent, and extensible variant interpretation pipeline implementing ACMG/AMP 2015 & 2023 guidelines.
Carrier frequency calculator for genetic counselors. Calculates recurrence risks for autosomal recessive conditions using gnomAD population data with clinical documentation output.
Add a description, image, and links to the clinical-genetics topic page so that developers can more easily learn about it.
To associate your repository with the clinical-genetics topic, visit your repo's landing page and select "manage topics."