19 projects
ga4gh.va-spec
GA4GH Variant Annotation (VA) reference implementation
ga4gh.cat-vrs
GA4GH Categorical Variation Representation (Cat-VRS) reference implementation
ga4gh.gks.metaschema
GA4GH Genomic Knowledge Standards meta-schema tools
ga4gh.vrs
GA4GH Variation Representation Specification (VRS) reference implementation
civicpy
CIViC variant knowledgebase analysis toolkit.
fusor
Computable object representation and validation for gene fusions
variation-normalizer
VICC normalization routine for variations
gene-normalizer
VICC normalization routines for genes
thera-py
VICC normalization routines for therapeutics
disease-normalizer
VICC normalization routines for diseases
agct
Another Genome Conversion Tool: Python frontend to Rust chainfile crate
metakb
A search interface for cancer variant interpretations assembled by aggregating and harmonizing across multiple cancer variant interpretation knowledgebases.
evidence-normalizer
VICC normalization routine for evidence
ga4gh.vrsatile.pydantic
"Translation of the GA4GH VRS and VRSATILE Schemas to a Pydantic data model"
uta-tools
Service for querying the biocommons.uta database
variant-normalizer
VICC normalization routine for variants
civic2clinvar
extraction of CIViC variants into the clinvar submission format
deepsvr
Automated Somatic Variant Refinement by Deep Learning
convert-zero-one-based
Convert between zero and one based coordinate systems and vice versa
