A platform that enables the visualization of individual genes for evidence of reannotation.
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Updated
Mar 10, 2023 - R
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genetic-testing
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Virtual gene panel integration for Parkinson's Disease. This workflow collects, filters, and enriches gene panels with genomic features from NCBI, producing ready-to-use BED files.
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Updated
Aug 31, 2025 - Jupyter Notebook
NCBI Medical Genetics, UMLS Unified Medical Language System Concepts and PubMed linked citations
mysql sql genetics pubmed gene-ontology phenotypes ncbi umls genetic-variants snomed-ct ctakes human-phenotype-ontology ctakes-clinical-pipeline genetic-testing unified-medical-language-system genereviews
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Updated
May 5, 2024 - Shell
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