The Freimuth Laboratory: Informatics of Genomic Medicine
- 2 followers
- United States of America
- https://www.mayo.edu/research/labs/informatics-genomic-medicine
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Genomic_Study_GTR_pilot
Genomic_Study_GTR_pilot PublicProviding NCBI Genetic Testing Registry as FHIR resources, mainly the FHIR R5 Genomic Study resource and some supporting resources
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biocommons-anyvar
biocommons-anyvar PublicForked from biocommons/anyvar
[in development] Proof-of-Concept variation translation, validation, and registration service
Python
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biocommons-hgvs
biocommons-hgvs PublicForked from biocommons/hgvs
Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
Python
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ga4gh-vrs-python
ga4gh-vrs-python PublicForked from ga4gh/vrs-python
GA4GH Variation Representation Python Implementation
Jupyter Notebook
Repositories
- MolDef-VRS-Translator Public
InformaticsGenomicMedicine/MolDef-VRS-Translator’s past year of commit activity - MolDef-spec-python Public
InformaticsGenomicMedicine/MolDef-spec-python’s past year of commit activity - transcript-model Public
InformaticsGenomicMedicine/transcript-model’s past year of commit activity - Genomic_Study_GTR_pilot Public
Providing NCBI Genetic Testing Registry as FHIR resources, mainly the FHIR R5 Genomic Study resource and some supporting resources
InformaticsGenomicMedicine/Genomic_Study_GTR_pilot’s past year of commit activity - ga4gh-vrs-python Public Forked from ga4gh/vrs-python
GA4GH Variation Representation Python Implementation
InformaticsGenomicMedicine/ga4gh-vrs-python’s past year of commit activity - biocommons-anyvar Public Forked from biocommons/anyvar
[in development] Proof-of-Concept variation translation, validation, and registration service
InformaticsGenomicMedicine/biocommons-anyvar’s past year of commit activity
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