GitHub topics: rare-variant-analysis
abureau/RetroFun-RVS
Code to use RetroFun-RVS
Language: R - Size: 153 KB - Last synced at: 6 days ago - Pushed at: 6 days ago - Stars: 0 - Forks: 1
deeprob/BMI_monogenic
Codebase for BMI project
Language: Jupyter Notebook - Size: 2.34 MB - Last synced at: 13 days ago - Pushed at: 13 days ago - Stars: 0 - Forks: 0
uclanelsonlab/nl-rna-seq_wf
RNA-seq for rare diseases pipeline using nextflow
Language: Nextflow - Size: 12.9 MB - Last synced at: 16 days ago - Pushed at: 17 days ago - Stars: 1 - Forks: 0
scholl-lab/variantcentrifuge
A pipeline for filtering annotated variant call format files
Language: Python - Size: 80.9 MB - Last synced at: 19 days ago - Pushed at: 19 days ago - Stars: 1 - Forks: 0
KalinNonchev/gnomAD_DB
This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.
Language: Python - Size: 17.7 MB - Last synced at: 20 days ago - Pushed at: 3 months ago - Stars: 47 - Forks: 12
brentp/slivar
genetic variant expressions, annotation, and filtering for great good.
Language: Nim - Size: 3.26 MB - Last synced at: about 1 month ago - Pushed at: about 2 months ago - Stars: 262 - Forks: 24
GiuseppeBocci/Pipeline-for-Biallelic-Rare-Genetic-Disorders
Genomics 2025/2026 Project a bit enhanced :)
Language: Shell - Size: 12.7 KB - Last synced at: 5 months ago - Pushed at: 5 months ago - Stars: 0 - Forks: 0
xihaoli/STAAR
An R package for performing STAAR procedure in whole-genome sequencing studies
Language: C++ - Size: 2.94 MB - Last synced at: 7 months ago - Pushed at: 7 months ago - Stars: 91 - Forks: 42
scholl-lab/vcf-filtering
A collection of scripts for filtering annotated variant call format files
Language: Shell - Size: 80.1 KB - Last synced at: 9 months ago - Pushed at: 9 months ago - Stars: 4 - Forks: 1
deeprob/pyrarecomb
Pythonic version of RareComb
Language: Jupyter Notebook - Size: 181 KB - Last synced at: 6 days ago - Pushed at: almost 2 years ago - Stars: 1 - Forks: 1
xihaoli/STAARpipeline-Tutorial
The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary
Language: R - Size: 251 KB - Last synced at: 9 months ago - Pushed at: 9 months ago - Stars: 26 - Forks: 17
xihaoli/MultiSTAAR
An R package for performing MultiSTAAR procedure in whole-genome sequencing studies
Language: R - Size: 655 KB - Last synced at: 10 months ago - Pushed at: 10 months ago - Stars: 4 - Forks: 2
xihaoli/MetaSTAAR
An R package for performing MetaSTAAR procedure in whole-genome sequencing studies
Language: R - Size: 1.43 MB - Last synced at: 10 months ago - Pushed at: 10 months ago - Stars: 21 - Forks: 7
xihaoli/STAARpipelineSummary
An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline
Language: R - Size: 1.61 MB - Last synced at: 11 months ago - Pushed at: 11 months ago - Stars: 9 - Forks: 5
ivanwilliammd/IDeRare
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
Language: Jupyter Notebook - Size: 39 MB - Last synced at: 5 months ago - Pushed at: about 1 year ago - Stars: 1 - Forks: 1
xihaoli/STAARpipeline
An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline
Language: R - Size: 2.2 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 53 - Forks: 17
diptavo/MultiSKAT
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.
Language: R - Size: 806 KB - Last synced at: almost 2 years ago - Pushed at: about 6 years ago - Stars: 11 - Forks: 1
ronaldosfjunior/VarSleuth
An R package for interpreting genetic variants according to the ACMG guidelines.
Language: R - Size: 16.6 KB - Last synced at: about 2 years ago - Pushed at: about 2 years ago - Stars: 0 - Forks: 0
petermchale/trfermikit
Discover VNTR-associated DELs that are hard to find using Illumina reads
Language: Jupyter Notebook - Size: 45.8 MB - Last synced at: over 2 years ago - Pushed at: over 2 years ago - Stars: 1 - Forks: 0
mcanouil/MiSTr 📦
Mixed effects Score Test
Language: R - Size: 20 MB - Last synced at: 6 months ago - Pushed at: over 2 years ago - Stars: 0 - Forks: 1
nicolerg/WatershedR Fork of BennyStrobes/Watershed
R package for the prioritization of functional rare genetic variants by integrating genomic annotations and RNA-seq
Language: R - Size: 2.72 MB - Last synced at: over 1 year ago - Pushed at: almost 3 years ago - Stars: 0 - Forks: 0
changebio/SEQLinkage Fork of gaow/SEQLinkage
Collapsed Haplotype Pattern Method for Linkage Analysis of Next-Generation Sequencing Data
Language: Jupyter Notebook - Size: 9.5 MB - Last synced at: 7 days ago - Pushed at: almost 3 years ago - Stars: 1 - Forks: 0
foundation29org/foundation29org
Repository to explain the projects currently being developed at Foundation29.
Size: 1.95 KB - Last synced at: over 2 years ago - Pushed at: about 5 years ago - Stars: 0 - Forks: 0
