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Official code repository for GATK versions 4 and up
This Snakemake pipeline implements the GATK best-practices workflow
Learning the Variant Call Format
GATK RNA-Seq Variant Calling in Nextflow
High performance data storage for importing, querying and transforming variants.
This repo has been archived, these workflows are still available in the GATK repository under the scripts directory.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.
Bioinformatics on GCP, AWS or Azure
Exome/Capture/RNASeq Pipeline Implementation using snakemake
Whole Exome/Whole Genome Sequencing alignment pipeline
GitHub for the SIB courses NGS - Genome variant analysis
Sentieon DNAseq
secondary analysis pipelines parallelized with apache spark
Reusable and maintained Luigi tasks to incorporate in bioinformatics pipelines
Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)
Collecting Genotypes from ENA and make their SNPs
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.
:snake::wrench: Snakemake wrappers for GATK.
Variant calling pipeline for germline enrichment NGS data
Genome analysis pipeline that follows GATK best practices from Broad Institute
VariantCaller is a wrapper for the 2022 gatk & bcftools best practices + phasing with WhatsHap.
Diablo G25 - is a tool for conversion of VCF file to 23AndMe format and calculation of admixture scores from it.
Some workflows I wrote for my phd projects
Pipelines for SNVs and InDels calling (single sample and joint) in WEGS, WGS, and WES using GATK.
WDL-based pipelines
Supporting GATK4 on IBM Power architecture, including enablement, performance tuning and optimization.
An Efficient Design of a Next Generation Sequencing pipeline with Apache Spark
Workflows for whole-genome/exome sequencing data analysis
Variant calling + processing pipline using GATK based in Snakemake
Confirmation of which GATK4 versions go against VCF specifications and call missing GT as 0/0 instead of ./.
A nextflow pipeline implementing GATK's HaplotypeCaller best practices