omicsDiagnostics
importedsoftware/omicsdiagnostics
This repository contains different scripts to automate and visualize analysis performed for the "Integration of proteomics with genomics and transcriptomics increases the diagnosis rate of Mendelian…
Machine-generated from the listed sources and not yet reviewed by a human.
- Category
- Software & Systems
- Subcategory
- unknown
- License
- MIT(osi)
- Status
- maintained
- Maturity
- deployed
- Organization
- prokischlab
- Country
- unknown
- Repository
- github.com/prokischlab/omicsDiagnostics
- Documentation
- unknown
- Tags
- diagnostics · hpo · multiomics · outlier-detection · proteomics · rare-disease · rna-seq
- Regulatory
- unknown
Top contributors by commit count, from the project’s public repository. Avatars are served by their origin, not stored here. To be removed from this list, open an issue.
Computed from shared tags, weighted so a rare tag counts for more than a common one. These are suggestions, not curated relationships.
- rarediseasediagnostics · rare-disease
Call and score variants from WGS/WES of rare disease patients.
AI Diagnosis Assistant for Diagnosing Rare Diseases
- nanoSPLITSmultiomics · proteomics
Github repository for nanoSPLITS manuscript data and R scripts
- sdrf-pipelinesmultiomics · proteomics
SDRF official validator and converts SDRF to pipeline configuration files
- proteomics-sample-metadatamultiomics · proteomics
SDRF: The Proteomics sample metadata: Standard for experimental design annotation in proteomics datasets
- PyFeat-2.xproteomics · rna-seq
Biological Feature Representation Tool form the Sequences
- api.github.com/repos/prokischlab/omicsDiagnosticsretrieved 2026-08-05 · via github-api
Machine-imported from GitHub search. Last push 2025-06-04, 10 stars, license reported as MIT. Category and schematic were assigned by keyword heuristics and are unreviewed.
Not yet verified by a human. Correct this record →
/v1/entries/22.json→ .entries["omicsdiagnostics"]
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