R package for the prioritization of functional rare genetic variants by integrating genomic annotations and RNA-seq
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Updated
Dec 6, 2022 - R
R package for the prioritization of functional rare genetic variants by integrating genomic annotations and RNA-seq
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
A Simple Tutorial for Analyzing Data Using the R Language
Pythonic version of RareComb
Code to use RetroFun-RVS
Repository to explain the projects currently being developed at Foundation29.
Discover VNTR-associated DELs that are hard to find using Illumina reads
RNA-seq for rare diseases pipeline using nextflow
Collapsed Haplotype Pattern Method for Linkage Analysis of Next-Generation Sequencing Data
A collection of scripts for filtering annotated variant call format files
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.
An R package for performing MultiSTAAR procedure in whole-genome sequencing studies
An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline
An R package for performing MetaSTAAR procedure in whole-genome sequencing studies
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.
The tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary
An R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline
genetic variant expressions, annotation, and filtering for great good.
An R package for performing STAAR procedure in whole-genome sequencing studies
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