A light and flexible R package to evaluate GWAS-based gene prioritization methods for complex traits.
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Nov 27, 2019 - R
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gene-prioritization
Here are 16 public repositories matching this topic...
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
gene-prioritization phenotype-exchange-format phenotype-ontologies exome-sequencing-analysis rare-variant-analysis phenotype-prediction rare-disease phenotype-genotype-information
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Aug 6, 2024 - Jupyter Notebook
Turn a candidate gene list and a disease context into a ranked, evidence supported review. Deterministic keyless core, optional Claude agent layer.
bioinformatics r genomics shiny rstats clinvar gene-prioritization variant-interpretation rare-disease evidence-synthesis llm open-targets agentic-ai ellmer
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Sep 16, 2026 - R
A comprehensive bioinformatics pipeline for downloading and analyzing genes associated with specific phenotypes from multiple biological databases. This package provides both R scripts for gene retrieval and Python analysis tools for downstream analysis.
bioinformatics r genomics computational-biology gtex phenotypes uniprot opentargets kegg reactome disgenet disease-gene-association hpo omim gene-prioritization literature-mining string-db phenotype-to-gene
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Sep 25, 2026 - R
Gene prioritisation tool using a weighted network methodology based on Gene Ontology and Human Phenotype Ontology annotations to infer closely related genes to given genes of interest.
gene-ontology gene-prioritization random-walk-with-restart ppi-networks human-phenotype-ontology omnipath
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Nov 2, 2022 - R
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May 29, 2022 - Jupyter Notebook
EDA of different databases to extract IBD-relevant genes, their coverage in a 10X Genomics spatial transcriptomics panel and the main cell types and tissues related to these genes.
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Feb 15, 2025 - Jupyter Notebook
Shiny app that builds a ranked, multi-source gene list for a disease, with transparent scoring and optional AI curation.
bioinformatics r genomics shiny rstats clinvar gene-prioritization gene-panel gnomad open-targets dgidb panelapp
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Sep 10, 2026 - R
Chaos game representation + 2D multifractal cross-correlation (MF-X-DFA) for gene prioritization (Theory in Biosciences 2024, doi:10.1007/s12064-024-00418-3)
bioinformatics multifractal cross-correlation gene-prioritization fractal-analysis chaos-game-representation
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Jul 3, 2026 - Python
Semantic ontology-driven gene evidence integration framework for reproducible phenotype-scoped consensus ranking.
python bioinformatics genomics reproducible-research computational-biology epilepsy gene-prioritization mitochondria rare-disease semantic-scoring
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Jun 25, 2026 - Python
Software supporting work on "Gene prioritization coupled with next generation sequencing data processing pipeline". This project will be moving to the next level. It doe's not have an associated website yet.
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Jan 4, 2020 - Perl
Alignment-free gene prioritization using the moment of inertia tensor (Proteins 2022, doi:10.1002/prot.26226)
bioinformatics computational-biology phylogenetics protein-sequences alignment-free gene-prioritization
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Jul 3, 2026 - Python
Master's thesis (KU Leuven MSc AI): five ways of injecting biological side information into deep matrix completion for gene–disease prioritization
bioinformatics deep-learning pytorch recommender-systems matrix-completion gene-prioritization masters-thesis
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Aug 18, 2026 - Python
A high-precision homolog screening and candidate prioritization tool integrating reciprocal BLAST evidence with interpretable expression ranking.
python cli bioinformatics blast comparative-genomics transcriptomics gene-prioritization orthologs candidate-generation plant-biology
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Apr 22, 2026 - Python
Synthetic Bayesian benchmark for propagating mapping and network uncertainty through a four-gene core-membership model, with calibration and misspecification checks.
python numpy calibration bayesian-inference uncertainty-quantification statistical-genetics gene-prioritization synthetic-data research-software
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Sep 26, 2026 - Python
DepRanker: A gene impact score calculator (prioritization method) for RNAi / CRISPR screen results
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Dec 22, 2019 - Python
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