ga4gh / benchmarking-tools
Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
☆187Updated 3 years ago
Related projects: ⓘ
- A structural variation pipeline for short-read sequencing☆169Updated this week
- VarDict☆187Updated 8 months ago
- Workflows for germline short variant discovery with GATK4☆133Updated 3 years ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆250Updated 8 months ago
- Tools for processing and analyzing structural variants.☆147Updated 2 years ago
- Annotation and Ranking of Structural Variation☆210Updated 2 weeks ago
- Finder of Somatic Fusion Genes in RNA-seq data☆141Updated last year
- A tool set for short variant discovery in genetic sequence data.☆190Updated 3 years ago
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆208Updated 2 years ago
- Structural variation and indel detection by local assembly☆230Updated 3 months ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆152Updated last year
- A minimap2 frontend for PacBio native data formats☆170Updated 3 months ago
- ☆81Updated 5 years ago
- ☆244Updated this week
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆146Updated 3 weeks ago
- Fast and accurate gene fusion detection from RNA-Seq data☆225Updated 6 months ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆191Updated last month
- ABRA2☆90Updated last year
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆288Updated 3 months ago
- This Snakemake pipeline implements the GATK best-practices workflow☆239Updated last year
- GATK RNA-Seq Variant Calling in Nextflow☆131Updated last year
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆138Updated this week
- Precision HLA typing from next-generation sequencing data☆182Updated 6 months ago
- Count bases in BAM/CRAM files☆298Updated 2 years ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆148Updated 2 years ago
- Nanopore demultiplexing, QC and alignment pipeline☆169Updated 3 weeks ago
- Script to automatically create and run IGV snapshot batchscripts☆137Updated last year
- Long read production pipelines☆136Updated this week
- Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads☆106Updated last year
- structural variant calling and genotyping with existing tools, but, smoothly.☆230Updated 3 months ago