Topic: "gatk"
broadinstitute/gatk
Official code repository for GATK versions 4 and up
Language: Java - Size: 463 MB - Last synced at: about 19 hours ago - Pushed at: 1 day ago - Stars: 1,847 - Forks: 614

snakemake-workflows/dna-seq-gatk-variant-calling
This Snakemake pipeline implements the GATK best-practices workflow
Language: Python - Size: 9.14 MB - Last synced at: 6 months ago - Pushed at: about 2 years ago - Stars: 250 - Forks: 145

davetang/learning_vcf_file
Learning the Variant Call Format
Language: Perl - Size: 42.7 MB - Last synced at: 6 days ago - Pushed at: about 1 month ago - Stars: 144 - Forks: 40

CRG-CNAG/CalliNGS-NF
GATK RNA-Seq Variant Calling in Nextflow
Language: Nextflow - Size: 29 MB - Last synced at: 3 months ago - Pushed at: over 2 years ago - Stars: 133 - Forks: 53

GenomicsDB/GenomicsDB
High performance data storage for importing, querying and transforming variants.
Language: C++ - Size: 65.9 MB - Last synced at: about 2 months ago - Pushed at: 4 months ago - Stars: 98 - Forks: 16

gatk-workflows/gatk4-somatic-snvs-indels 📦
This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are also organized in Dockstore in the GATK Best Practices Workflows collection.
Language: wdl - Size: 151 KB - Last synced at: about 1 year ago - Pushed at: over 5 years ago - Stars: 76 - Forks: 42

lynnlangit/TeamTeri
Bioinformatics on GCP, AWS or Azure
Language: Shell - Size: 135 MB - Last synced at: 8 days ago - Pushed at: 14 days ago - Stars: 58 - Forks: 17

patidarr/ngs_pipeline
Exome/Capture/RNASeq Pipeline Implementation using snakemake
Language: Python - Size: 46.6 MB - Last synced at: almost 2 years ago - Pushed at: over 7 years ago - Stars: 43 - Forks: 19

IARCbioinfo/alignment-nf
Whole Exome/Whole Genome Sequencing alignment pipeline
Language: Nextflow - Size: 3.73 MB - Last synced at: 12 months ago - Pushed at: 12 months ago - Stars: 26 - Forks: 12

sib-swiss/NGS-variants-training
GitHub for the SIB courses NGS - Genome variant analysis
Language: Shell - Size: 69.4 MB - Last synced at: 1 day ago - Pushed at: 9 months ago - Stars: 25 - Forks: 9

Sentieon/sentieon-dnaseq 📦
Sentieon DNAseq
Language: Shell - Size: 60.5 KB - Last synced at: over 1 year ago - Pushed at: over 4 years ago - Stars: 19 - Forks: 12

biopet/biopet
Biopet docs
Language: Scala - Size: 11.5 MB - Last synced at: almost 2 years ago - Pushed at: about 7 years ago - Stars: 17 - Forks: 3

databricks/genomics-pipelines
secondary analysis pipelines parallelized with apache spark
Language: Scala - Size: 14 MB - Last synced at: 9 days ago - Pushed at: over 3 years ago - Stars: 16 - Forks: 12

isugifNF/GATK-flow
Nextflow implementation of the GATK HaplotypeCaller pipeline
Language: Nextflow - Size: 2.34 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 13 - Forks: 2

PavlidisLab/bioluigi
Reusable and maintained Luigi tasks to incorporate in bioinformatics pipelines
Language: Python - Size: 121 KB - Last synced at: 22 days ago - Pushed at: 22 days ago - Stars: 9 - Forks: 0

waqasuddinkhan/MACARON-GenMed-LabEx
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
Language: Python - Size: 121 KB - Last synced at: almost 2 years ago - Pushed at: over 5 years ago - Stars: 7 - Forks: 3

wtsi-hgi/gatk-cwl-generator
Generates CWL files from the GATK documentation
Language: Python - Size: 42.5 MB - Last synced at: 2 months ago - Pushed at: about 7 years ago - Stars: 7 - Forks: 1

TRON-Bioinformatics/tronflow-bam-preprocessing
Nextflow pipeline for the preprocessing of BAM files based on GATK best practices. Marking duplicates, realignment around indels, base quality score recalibration (BQSR) and reporting of metrics are optional to maintain flexibility for different use cases.
Language: Nextflow - Size: 8.56 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 5 - Forks: 0

AmirHoseinSafari/Genotype-collector-and-SNP-dataset-creator
Collecting Genotypes from ENA and make their SNPs
Language: Python - Size: 40 KB - Last synced at: over 2 years ago - Pushed at: almost 4 years ago - Stars: 5 - Forks: 0

Nucleomics-VIB/admin-tools
sysadmin tasks made easier
Language: Shell - Size: 221 KB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 4 - Forks: 0

mcgml/GermlineEnrichment
Variant calling pipeline for germline enrichment NGS data
Language: Shell - Size: 8.69 MB - Last synced at: almost 2 years ago - Pushed at: almost 3 years ago - Stars: 4 - Forks: 3

dohlee/snakemake-gatk
:snake::wrench: Snakemake wrappers for GATK.
Language: Python - Size: 49.8 KB - Last synced at: 16 days ago - Pushed at: over 4 years ago - Stars: 4 - Forks: 4

esohkevin/ei-ngs
Workflows for whole-genome/exome sequencing data analysis
Language: Nextflow - Size: 684 KB - Last synced at: 16 days ago - Pushed at: 16 days ago - Stars: 3 - Forks: 1

CERC-Genomic-Medicine/WEGS_pipelines
Pipelines for SNVs and InDels calling (single sample and joint) in WEGS, WGS, and WES using GATK.
Language: Nextflow - Size: 4.07 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 3 - Forks: 0

genomicsITER-developers/wdl
WDL-based pipelines
Language: wdl - Size: 494 KB - Last synced at: about 2 years ago - Pushed at: about 4 years ago - Stars: 3 - Forks: 0

ruzhuchen/GATK4-Power
Supporting GATK4 on IBM Power architecture, including enablement, performance tuning and optimization.
Language: Dockerfile - Size: 48.8 MB - Last synced at: almost 2 years ago - Pushed at: about 5 years ago - Stars: 3 - Forks: 3

programmingprincess/genome-analysis
Genome analysis pipeline that follows GATK best practices from Broad Institute
Language: Jupyter Notebook - Size: 1.89 MB - Last synced at: over 2 years ago - Pushed at: over 5 years ago - Stars: 3 - Forks: 1

Vzzarr/NGS-SparkGATK
An Efficient Design of a Next Generation Sequencing pipeline with Apache Spark
Language: PostScript - Size: 28.1 MB - Last synced at: almost 2 years ago - Pushed at: over 7 years ago - Stars: 3 - Forks: 1

plantinformatics/shortbread2
Shortbread2 is a bioinformatics pipeline for identifying single nucleotide polymorphisms (SNPs) and insertions/deletions (indels) from High-Throughput Next Generation Sequencing (NGS) data.
Language: Perl - Size: 819 MB - Last synced at: 2 months ago - Pushed at: 3 months ago - Stars: 2 - Forks: 1

georgiesamaha/fq2vcf
Bash scripts for fastq to vcf pipeline, written for USyd Artemis HPC.
Language: Shell - Size: 54.7 KB - Last synced at: 6 months ago - Pushed at: over 2 years ago - Stars: 2 - Forks: 1

TheSergeyPixel/Diablo_G25
Diablo G25 - is a tool for conversion of VCF file to 23AndMe format and calculation of admixture scores from it.
Language: Python - Size: 15.4 MB - Last synced at: over 1 year ago - Pushed at: almost 3 years ago - Stars: 2 - Forks: 0

modupeore/VAP
VAP : For Reference mapping and Variant detection.
Language: Perl - Size: 21.5 KB - Last synced at: almost 2 years ago - Pushed at: over 3 years ago - Stars: 2 - Forks: 4

colbyford/msgen
msgen: R functions for interfacing with the Microsoft Genomics service on Azure.
Language: R - Size: 1.19 MB - Last synced at: over 2 years ago - Pushed at: over 4 years ago - Stars: 2 - Forks: 0

labbcb/hpexome
An automated tool for processing whole-exome sequencing data
Language: Python - Size: 41.6 MB - Last synced at: 22 days ago - Pushed at: over 5 years ago - Stars: 2 - Forks: 5

samleenz/rnaseq-variant-gatk 📦
Variant calling + processing pipline using GATK based in Snakemake
Language: Python - Size: 61.5 KB - Last synced at: over 2 years ago - Pushed at: over 7 years ago - Stars: 2 - Forks: 0

davetang/tang_sd_2015
Language: Perl - Size: 18.6 KB - Last synced at: 6 days ago - Pushed at: over 8 years ago - Stars: 2 - Forks: 2

TRON-Bioinformatics/tronflow-haplotype-caller
A nextflow pipeline implementing GATK's HaplotypeCaller best practices
Language: Nextflow - Size: 9.14 MB - Last synced at: 7 months ago - Pushed at: 7 months ago - Stars: 1 - Forks: 0

lpembleton/gatk4-when-did-dot-leave
Confirmation of which GATK4 versions go against VCF specifications and call missing GT as 0/0 instead of ./.
Size: 76.2 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 1 - Forks: 0

laura-budurlean/GATK-WGS-Pipeline
GATK WGS workflow
Language: Shell - Size: 10.7 KB - Last synced at: 2 months ago - Pushed at: about 2 years ago - Stars: 1 - Forks: 0

oicr-gsi/gatk3
Language: Java - Size: 703 KB - Last synced at: about 2 years ago - Pushed at: almost 3 years ago - Stars: 1 - Forks: 0

lvn3668/gatkparser
Python package to parse GATK Output and extract summary statistics at mbq 0,10,20,30 and variant evaluation metrics
Language: Python - Size: 15.3 MB - Last synced at: over 1 year ago - Pushed at: about 4 years ago - Stars: 1 - Forks: 0

AlexanderKononov/pipeline_cloneHD
Toolbox for work with CloneHD application
Language: Shell - Size: 13.7 KB - Last synced at: almost 2 years ago - Pushed at: about 5 years ago - Stars: 1 - Forks: 0

christacaggiano/exome_processing_pipeline
simple pipeline for processing exome sequencing data using BWA and GATK4
Language: Shell - Size: 9.77 KB - Last synced at: about 2 years ago - Pushed at: about 5 years ago - Stars: 1 - Forks: 0

BU-ISCIII/exome_pipeline 📦
Miscellaneous pipelines for genomics computation analysis in a SGE HPC platform.
Language: Shell - Size: 199 MB - Last synced at: 2 months ago - Pushed at: over 5 years ago - Stars: 1 - Forks: 0

rbpisupati/nf-haplocaller
Nextflow pipeline for GATK best practices (HaplotypeCaller)
Language: Nextflow - Size: 17.6 KB - Last synced at: 3 months ago - Pushed at: about 6 years ago - Stars: 1 - Forks: 2

zek12/NGS_scripts
Language: Shell - Size: 1.19 MB - Last synced at: about 2 years ago - Pushed at: over 6 years ago - Stars: 1 - Forks: 1

RRafiee/GenomeAnalysisToolkit
Genome Analysis Toolkit
Language: R - Size: 45.9 KB - Last synced at: almost 2 years ago - Pushed at: over 6 years ago - Stars: 1 - Forks: 0

svsuresh/ngs_scripts
This repository contains bash shell scripts
Language: R - Size: 9.77 KB - Last synced at: about 2 years ago - Pushed at: over 7 years ago - Stars: 1 - Forks: 0

drveera/exomepipe
A pipeline for variant calling of Exome using GATK best practice workflow
Language: Makefile - Size: 17.6 KB - Last synced at: over 2 years ago - Pushed at: over 8 years ago - Stars: 1 - Forks: 0

HaoKuo/NGS-pipeline
GATK and VARSCAN analysis pipeline
Language: Python - Size: 18.6 KB - Last synced at: over 2 years ago - Pushed at: over 8 years ago - Stars: 1 - Forks: 0

afreeorange/autozygosity
A public, web-based homozygosity mapping tool
Language: Python - Size: 3.51 MB - Last synced at: over 1 year ago - Pushed at: over 11 years ago - Stars: 1 - Forks: 1

sebastian-gregoricchio/SPACCa
Snakemake Pipeline for the Analyses of ChIP-seq data in Cancer samples
Language: Python - Size: 4.74 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 0 - Forks: 0

alexliyihao/EFIGA_WGS
Implementation of WGS genotyping pipeline for EFIGA FBS FAMILY dataset
Language: Shell - Size: 104 KB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

mmterpstra/molgenis-c5-TumorNormal
Language: Shell - Size: 12.3 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 0 - Forks: 1

GiatrasKon/Chromosome11-VariantCalling-GATK
A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.
Language: R - Size: 10.2 MB - Last synced at: 2 months ago - Pushed at: 9 months ago - Stars: 0 - Forks: 1

nunososorio/Pfalciparum-ReducedACT-Susceptibility
This repository contains data and code for our analysis of the genome of a Plasmodium falciparum strain with reduced susceptibility to Artemisinin-Based Combination Therapy (ACT) drugs. We performed whole-genome sequencing of the HSOG3 clinical isolate and compared it with a large dataset of global P. falciparum samples.
Language: Python - Size: 34.5 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0

anita-brzoza/university_projects
The repository contain directories of projects done during the bioinformatics degree program
Language: HTML - Size: 894 KB - Last synced at: almost 2 years ago - Pushed at: almost 3 years ago - Stars: 0 - Forks: 0

lajd/reads2variants
Convert NGS reads to analysis ready variants with GATK's ReadsPipelineSpark
Language: Python - Size: 263 KB - Last synced at: over 2 years ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 0

RhettRautsaw/VariantCaller
VariantCaller is a wrapper for the 2022 gatk & bcftools best practices + phasing with WhatsHap.
Language: Python - Size: 22.5 KB - Last synced at: over 2 years ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 0

beroukhim-lab/GATK_CN_CWL
Implementation of the GATK copy number pipeline in CWL (ported from WDL)
Language: Common Workflow Language - Size: 91.8 KB - Last synced at: 6 months ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 1

SherineAwad/RNASeqVariantCalling
GATK variant calling for RNASeq
Language: Python - Size: 6.84 KB - Last synced at: about 2 years ago - Pushed at: over 3 years ago - Stars: 0 - Forks: 0

ahalfpen727/VariantAnalysisScripts
Several variant analysis workflows for different types of sequencing data
Language: R - Size: 12.5 MB - Last synced at: almost 2 years ago - Pushed at: almost 4 years ago - Stars: 0 - Forks: 0

ruizhideng/wgs_pipeline
Language: Shell - Size: 5.72 MB - Last synced at: over 1 year ago - Pushed at: about 5 years ago - Stars: 0 - Forks: 1

zek12/dockerized_gatk_pipeline
Dockerized version of the GATK 3.7 best practises pipeline for whole genomes.
Language: Shell - Size: 14.6 KB - Last synced at: about 2 years ago - Pushed at: over 5 years ago - Stars: 0 - Forks: 1

datasnakes/pyVariant 📦
A pipeline to call variants for RNASeq implemented with python.
Size: 0 Bytes - Last synced at: over 1 year ago - Pushed at: about 7 years ago - Stars: 0 - Forks: 0

adiamb/EXOME_1000G_WF
Language: Shell - Size: 36.1 KB - Last synced at: over 2 years ago - Pushed at: about 7 years ago - Stars: 0 - Forks: 0

myourshaw/gsalib
Python utility functions for reading GATK Report files into pandas DataFrames
Language: Python - Size: 87.9 KB - Last synced at: 3 months ago - Pushed at: over 7 years ago - Stars: 0 - Forks: 0

tycheleturner/exome_class
Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D.
Language: R - Size: 7.62 MB - Last synced at: about 2 years ago - Pushed at: almost 8 years ago - Stars: 0 - Forks: 1

RRafiee/MuTect1
Language: R - Size: 2.3 MB - Last synced at: almost 2 years ago - Pushed at: over 8 years ago - Stars: 0 - Forks: 0
