28 projects
vrsix
Tools for indexing GREGoR VCFs
metakb
A search interface for cancer variant interpretations assembled by aggregating and harmonizing across multiple cancer variant interpretation knowledgebases.
ga4gh.vrs
GA4GH Variation Representation Specification (VRS) reference implementation
thera-py
VICC normalization routines for therapeutics
variation-normalizer
VICC normalization routine for variations
disease-normalizer
VICC normalization routines for diseases
gene-normalizer
VICC normalization routines for genes
ga4gh.va-spec
GA4GH Variant Annotation (VA) reference implementation
cool-seq-tool
Common Operation on Lots of Sequences Tool
fusor
Computable object representation and validation for gene fusions
ga4gh.cat-vrs
GA4GH Categorical Variation Representation (Cat-VRS) reference implementation
civicpy
CIViC variant knowledgebase analysis toolkit.
biocommons.seqrepo
Non-redundant, compressed, journalled, file-based storage for biological sequences
vrs-anvil-toolkit
Useful tools and methods for applying GA4GH GKS and VRS models on the NHGRI AnVIL platform.
agct
Another Genome Conversion Tool: Python frontend to Rust chainfile crate
evidence-normalizer
VICC normalization routines for evidence
bioutils
miscellaneous simple bioinformatics utilities and lookup tables
biocommons.example
Example Package
uta-align
C-based sequence alignment for Python
seqrepo-rest-service
SeqRepo REST Service
hgvs-dataproviders-rest
hgvs dataproviders based on UTA and SeqRepo REST Interfaces
hgvs
HGVS Parser, Formatter, Mapper, Validator
py-gene-fusions
Package for structuring gene fusions
eutils
"Python interface to NCBI's eutilities API"
uta
Universal Transcript Archive
