Characterization of Germline variants
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Updated
Mar 15, 2022 - Python
Characterization of Germline variants
Cancer Predisposition Sequencing Reporter (CPSR)
Bitscopic Interpreting ACMG 2015 Standards
Tool for automated classification of genetic variants according to ACMG criteria.
🧬 A user-guided, interactive ACMG/AMP variant classification assistant integrating clinical and in silico data for pathogenicity estimation.
The newest iteration of my personal web app.
Aid for explanation of genetic variants in human
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