genetic variant expressions, annotation, and filtering for great good.
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May 2, 2026 - Nim
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rare-variant-analysis
Here are 28 public repositories matching this topic...
An R package for performing STAAR procedure in whole-genome sequencing studies
statistical-genetics whole-genome-sequencing functional-annotation rare-variant-analysis staar-procedure
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Feb 9, 2025 - C++
An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline
statistical-genetics whole-exome-sequencing whole-genome-sequencing functional-annotation rare-variant-analysis staar-pipeline
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Mar 23, 2025 - R
Scalable SQLite database for fast querying of gnomAD variant annotations (allele frequency, depth, population metrics). Supports gnomAD v2-v4, WGS and WES.
python bioinformatics database annotation genomics genetics sqlite vcf population-genetics whole-genome-sequencing variant-annotation variant-analysis exome-sequencing rare-variant-analysis gnomad allele-frequency
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Mar 8, 2026 - Python
The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary
statistical-genetics whole-exome-sequencing whole-genome-sequencing functional-annotation multi-trait-analysis rare-variant-analysis staar-pipeline
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Dec 3, 2024 - R
An R package for performing MetaSTAAR procedure in whole-genome sequencing studies
meta-analysis statistical-genetics whole-genome-sequencing functional-annotation rare-variant-analysis metastaar-procedure
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Nov 9, 2024 - R
An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline
statistical-genetics whole-exome-sequencing whole-genome-sequencing functional-annotation rare-variant-analysis staar-pipeline
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Oct 16, 2024 - R
MultiSKAT is an R-package focused at rare-variant analysis of continuous multiple phenotype data. This project contains the R-codes/functions (including an example dataset) to carry out the MultiSKAT tests.
gwas kernel genetic-analysis copula kinship rare-variants rare-variant-analysis multiple-phenotypes multiskat-tests
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Jun 11, 2019 - R
An R package for performing MultiSTAAR procedure in whole-genome sequencing studies
statistical-genetics whole-genome-sequencing functional-annotation multi-trait-analysis rare-variant-analysis multistaar-procedure
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Nov 14, 2024 - R
STAAR Pipeline for Analyzing Whole-Genome/Whole-Exome Sequencing Data in PheWAS (PheWAS Version of STAARpipeline)
statistical-genetics whole-exome-sequencing whole-genome-sequencing functional-annotation phewas rare-variant-analysis
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Feb 5, 2026 - R
A collection of scripts for filtering annotated variant call format files
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Dec 17, 2024 - Shell
Codebase for BMI project
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Aug 26, 2025 - Jupyter Notebook
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
Pythonic version of RareComb
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Nov 7, 2023 - Jupyter Notebook
RNA-seq for rare diseases pipeline using nextflow
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Feb 26, 2026 - Nextflow
A pipeline for filtering annotated variant call format files
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Feb 27, 2026 - Python
Repository to explain the projects currently being developed at Foundation29.
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Aug 25, 2020
Discover VNTR-associated DELs that are hard to find using Illumina reads
genomics tandem-repeats sequence-alignment whole-exome-sequencing whole-genome-sequencing illumina-sequencing structural-variation rare-variant-analysis rare-disease
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Jan 17, 2023 - Jupyter Notebook
Collapsed Haplotype Pattern Method for Linkage Analysis of Next-Generation Sequencing Data
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Sep 13, 2022 - Jupyter Notebook
R package for the prioritization of functional rare genetic variants by integrating genomic annotations and RNA-seq
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Dec 6, 2022 - R
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