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Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

C 63 20 Updated Apr 20, 2025

An automatic classification tool for PVS1 interpretation of null variants

Python 35 18 Updated Mar 4, 2024

Pysam is a Python package for reading, manipulating, and writing genomics data such as SAM/BAM/CRAM and VCF/BCF files. It's a lightweight wrapper of the HTSlib API, the same one that powers samtool…

Cython 836 289 Updated Jun 16, 2025
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