19 projects
variation-normalizer
VICC normalization routine for variations
gene-normalizer
VICC normalization routines for genes
disease-normalizer
VICC normalization routines for diseases
ga4gh.va-spec
GA4GH Variant Annotation (VA) reference implementation
ga4gh.cat-vrs
GA4GH Categorical Variation Representation (Cat-VRS) reference implementation
ga4gh.vrs
GA4GH Variation Representation Specification (VRS) reference implementation
fusor
Computable object representation and validation for gene fusions
metakb
A search interface for cancer variant interpretations assembled by aggregating and harmonizing across multiple cancer variant interpretation knowledgebases.
civicpy
CIViC variant knowledgebase analysis toolkit.
thera-py
VICC normalization routines for therapeutics
ga4gh.gks.metaschema
GA4GH Genomic Knowledge Standards meta-schema tools
agct
Another Genome Conversion Tool: Python frontend to Rust chainfile crate
evidence-normalizer
VICC normalization routines for evidence
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
