4 projects
varsim
HGVS variant toolkit: parse, validate, normalize, backtranslate, convert, extract, liftover, transcribe, and translate HGVS descriptions.
DeepMutSim
Enumerate all possible SNVs for MANE transcripts using HGVS nomenclature.
ensemblrestpy
Python client for Ensembl REST API
stembranch
celestial stem and terrestrial branch