biocommons.seqrepo
non-redundant, compressed, journalled, file-based storage for biological sequences
hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
@appthreat/atom
atom is a novel intermediate representation for applications and a standalone tool that is powered by chen.
https://github.com/biocommons/bioutils
provides common tools and lookup tables used primarily by the hgvs and uta packages
textexplorer
A tool designed for the exploration, analysis, and comparison of textual data variants.
https://github.com/brentp/echtvar
using all the bits for echt rapid variant annotation and filtering
https://github.com/brentp/slivar
genetic variant expressions, annotation, and filtering for great good.
https://github.com/biocommons/anyvar
[in development] Proof-of-Concept variation translation, validation, and registration service
https://github.com/broadinstitute/g2papi
Python Client Library for the G2P Portal API
https://github.com/biocommons/seqrepo-rest-service
OpenAPI-based REST interface to biological sequences and sequence metadata
germlineshortv_biovalidation
Workflow for biological validation of germline SNP and indel variant datasets.