rare-variant-analysis

There are 0 repository under rare-variant-analysis topic.

• brentp / slivar

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

  genomicsrare-diseaserare-variant-analysisvariant-analysisvariant-interpretation
  Language:Nim 241

• xihaoli / STAAR

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

  whole-genome-sequencingstatistical-geneticsstaar-procedurefunctional-annotationrare-variant-analysis
  Language:C++ 84

• xihaoli / STAARpipeline

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

  statistical-geneticswhole-genome-sequencingwhole-exome-sequencingfunctional-annotationrare-variant-analysisstaar-pipeline
  Language:R 51

• 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.

  annotationdatabasegeneticsgnomadrare-variant-analysisvariant-analysis
  Language:Python 29

• xihaoli / MetaSTAAR

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

  statistical-geneticswhole-genome-sequencingmeta-analysisfunctional-annotationrare-variant-analysismetastaar-procedure
  Language:R 20

• xihaoli / STAARpipeline-Tutorial

  The tutorial for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary

  statistical-geneticswhole-exome-sequencingwhole-genome-sequencingfunctional-annotationrare-variant-analysisstaar-pipeline
  Language:R 19

• 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.

  genetic-analysisgwasrare-variantsrare-variant-analysiskernelmultiple-phenotypesmultiskat-testskinshipcopula
  Language:R 11

• xihaoli / STAARpipelineSummary

  An R package for summarizing and visualizing association analysis results of whole-genome/whole-exome sequencing (WGS/WES) studies generated by STAARpipeline

  statistical-geneticswhole-genome-sequencingwhole-exome-sequencingfunctional-annotationrare-variant-analysisstaar-pipeline
  Language:R 8

• xihaoli / MultiSTAAR

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

  functional-annotationmulti-trait-analysismultistaar-procedurerare-variant-analysisstatistical-geneticswhole-genome-sequencing
  Language:R 3

• scholl-lab / vcf-filtering

  A collection of scripts for filtering annotated variant call format files

  bcftoolsgeneticskidney-diseaserare-diseaserare-variant-analysissnpeffsnpsiftvcf
  Language:Shell 2

• changebio / SEQLinkage

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

  collapse-haplotype-patternlinkage-analysisrare-variant-analysis
  Language:Jupyter Notebook 1

• ivanwilliammd / IDeRare

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

  exome-sequencing-analysisgene-prioritizationphenotype-exchange-formatphenotype-genotype-informationphenotype-ontologiesphenotype-predictionrare-diseaserare-variant-analysis
  Language:Jupyter Notebook 1

• petermchale / trfermikit

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

  genomicsillumina-sequencingrare-diseaserare-variant-analysissequence-alignmentstructural-variationtandem-repeatswhole-exome-sequencingwhole-genome-sequencing
  Language:Jupyter Notebook 1

• foundation29org / foundation29org

  Repository to explain the projects currently being developed at Foundation29.

  aiai4goodai4healthrare-diseaserare-variant-analysispatient-datafhirfair-datagenomics
  0

• ronaldosfjunior / VarSleuth

  An R package for interpreting genetic variants according to the ACMG guidelines.

  acmgacmg-guidelinesclinvargenetic-diagnosisgenetic-diseasesgenetic-variantsgnomadhgmdr-packagerare-variant-analysisvcfvcf-files
  Language:R 0

• wangjing8726 / Rare-variant-association-analysis-

  A Simple Tutorial for Analyzing Data Using the R Language

  heatmaplinear-mixed-effects-modellingrrare-variant-analysis
  Language:R 0

• deeprob / pyrarecomb

  Pythonic version of RareComb

  data-mining-algorithmsoligogenicrare-variant-analysis
  Language:Jupyter Notebook

• lmangnier / RetroFun-RVS

  Code to use RetroFun-RVS

  annotationsgeneticsstatisticsfamily-based-designrare-variant-analysis
  Language:R
• MiSTr

  mcanouil / MiSTr

  Mixed effects Score Test

  rr-packager-statsstatisticsrare-variant-analysis
  Language:R

• nicolerg / WatershedR

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

  rare-variant-analysiswatershedexpression-outliers
  Language:R