Characterization of Germline variants
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Updated
Mar 15, 2022 - Python
Characterization of Germline variants
Cancer Predisposition Sequencing Reporter (CPSR)
Tool for automated classification of genetic variants according to ACMG criteria.
Bitscopic Interpreting ACMG 2015 Standards
The newest iteration of my personal web app.
🧬 Comprehensive ACMG/AMP variant classification tool implementing all 28 evidence criteria (2015 & 2023 guidelines). Interactive CLI with API integrations, automated reporting, and support for clinical research workflows.
Aid for explanation of genetic variants in human
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