rare-variant-analysis

There are 20 repositories under rare-variant-analysis topic.

  • brentp/slivar

    genetic variant expressions, annotation, and filtering for great good.

    Language:Nim2521116123

  • xihaoli/STAAR

    An R package for performing STAAR procedure in whole-genome sequencing studies

    Language:C++91241742

  • xihaoli/STAARpipeline

    An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline

    Language:R6182120

  • 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:Python3832610

  • 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:R2697217

  • xihaoli/MetaSTAAR

    An R package for performing MetaSTAAR procedure in whole-genome sequencing studies

    Language:R21677

  • 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:R11151

  • 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:R9605

  • scholl-lab/vcf-filtering

    A collection of scripts for filtering annotated variant call format files

    Language:Shell41561

  • xihaoli/MultiSTAAR

    An R package for performing MultiSTAAR procedure in whole-genome sequencing studies

    Language:R4312

  • changebio/SEQLinkage

    Collapsed Haplotype Pattern Method for Linkage Analysis of Next-Generation Sequencing Data

    Language:Jupyter Notebook1200

  • ivanwilliammd/IDeRare

    Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi

    Language:Jupyter Notebook1101

  • petermchale/trfermikit

    Discover VNTR-associated DELs that are hard to find using Illumina reads

    Language:Jupyter Notebook1200

  • foundation29org/foundation29org

    Repository to explain the projects currently being developed at Foundation29.

    0300

  • lmangnier/RetroFun-RVS

    Code to use RetroFun-RVS

    Language:R0201

  • nicolerg/WatershedR

    R package for the prioritization of functional rare genetic variants by integrating genomic annotations and RNA-seq

    Language:R0000

  • uclanelsonlab/nl-rna-seq_wf

    RNA-seq for rare diseases pipeline using nextflow

    Language:Nextflow0130

  • wangjing8726/Rare-variant-association-analysis-

    A Simple Tutorial for Analyzing Data Using the R Language

    Language:R0100

  • deeprob/pyrarecomb

    Pythonic version of RareComb

    Language:Jupyter Notebook101
  • MiSTr

    mcanouil/MiSTr

    Mixed effects Score Test

    Language:R201