genetic variant expressions, annotation, and filtering for great good.
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May 28, 2024 - Nim
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rare-variant-analysis
Here are 21 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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Nov 26, 2024 - 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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Nov 17, 2024 - R
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.
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Apr 27, 2024 - 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
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 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
A collection of scripts for filtering annotated variant call format files
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Dec 17, 2024 - Shell
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
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
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
A Simple Tutorial for Analyzing Data Using the R Language
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Apr 12, 2023 - R
Code to use RetroFun-RVS
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Jul 25, 2024 - R
A pipeline for filtering annotated variant call format files
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Dec 19, 2024 - Python
Repository to explain the projects currently being developed at Foundation29.
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Aug 25, 2020
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