This release includes the following changes. Slurm workload manager is supported for all handlers. GATK v4.1.2 on the Slurm queueing system is supported for the following handlers: Haplotype_Caller Added Genomic_DB_Import handler (this combines GVCF files prior to running Genotype_GVCFs handler) Genotype_GVCF Create_HC_Subset (preparation steps for GATK Variant Recalibrator) Variant_Recalibrator GATK v4.1.2 on non-PBS queueing systems is supported for the following handlers: Haplotype_Caller Genotype_GVCF Variant_Filtering Additional changes: VCF annotation visualization to assist filtering has also been added. Jupyter Notebook template for exploring VCF files prior to variant recalibration/filtering steps is now avail...
Code, logs and data for discovery and genotyping of SNPs and indels, in the the D.melanogaster genom...
Porting to DSL2 Use CRAM files where possible Add new tools: DragMap, DeepVariant, Joint germline ca...
Changes Upgraded GATK version to 4.2.5.0 (see release notes https://github.com/broadinstitute/gatk/...
sequence_handling is a series of scripts, called handlers, that automate and speed up DNA sequence a...
We present elPrep 5, which updates the elPrep framework for processing sequencing alignment/map file...
Changes Add support for input directly VCF (--vcf) files instead of FASTA or FASTQ files. These VCF...
What's changed Improvements to SR genotyping and INS breakpoints: Update SR counting and genotyping...
The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increa...
Major changes Add read trimming with fastp Output QC results in JSON format Integrate 4 variant...
Abstract Background The advent of next generation sequencing has opened new avenues for basic and ap...
BACKGROUND: NGS technology represents a powerful alternative to the standard Sanger sequencing in t...
The bam-to-gvcf and jointgenotyping subworkflows were combined in a single gatk-variantcalling pipel...
Replace the bam-to-gvcf and jointgenotyping pipelines with a gatk-variantcalling pipeline. This red...
The Alzheimer's Disease Sequencing Project (ADSP) performed whole genome sequencing (WGS) of 584 sub...
Recent advances in variant calling made available in the Genome Analysis Toolkit (GATK) enable the u...
Code, logs and data for discovery and genotyping of SNPs and indels, in the the D.melanogaster genom...
Porting to DSL2 Use CRAM files where possible Add new tools: DragMap, DeepVariant, Joint germline ca...
Changes Upgraded GATK version to 4.2.5.0 (see release notes https://github.com/broadinstitute/gatk/...
sequence_handling is a series of scripts, called handlers, that automate and speed up DNA sequence a...
We present elPrep 5, which updates the elPrep framework for processing sequencing alignment/map file...
Changes Add support for input directly VCF (--vcf) files instead of FASTA or FASTQ files. These VCF...
What's changed Improvements to SR genotyping and INS breakpoints: Update SR counting and genotyping...
The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increa...
Major changes Add read trimming with fastp Output QC results in JSON format Integrate 4 variant...
Abstract Background The advent of next generation sequencing has opened new avenues for basic and ap...
BACKGROUND: NGS technology represents a powerful alternative to the standard Sanger sequencing in t...
The bam-to-gvcf and jointgenotyping subworkflows were combined in a single gatk-variantcalling pipel...
Replace the bam-to-gvcf and jointgenotyping pipelines with a gatk-variantcalling pipeline. This red...
The Alzheimer's Disease Sequencing Project (ADSP) performed whole genome sequencing (WGS) of 584 sub...
Recent advances in variant calling made available in the Genome Analysis Toolkit (GATK) enable the u...
Code, logs and data for discovery and genotyping of SNPs and indels, in the the D.melanogaster genom...
Porting to DSL2 Use CRAM files where possible Add new tools: DragMap, DeepVariant, Joint germline ca...
Changes Upgraded GATK version to 4.2.5.0 (see release notes https://github.com/broadinstitute/gatk/...