ga4gh / benchmarking-tools
Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
☆203Updated 4 years ago
Alternatives and similar repositories for benchmarking-tools:
Users that are interested in benchmarking-tools are comparing it to the libraries listed below
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆268Updated last year
- A structural variation pipeline for short-read sequencing☆187Updated this week
- Structural variation and indel detection by local assembly☆246Updated last month
- Annotation and Ranking of Structural Variation☆252Updated last month
- VarDict☆198Updated last year
- Workflows for germline short variant discovery with GATK4☆136Updated 3 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆316Updated 11 months ago
- Tools for processing and analyzing structural variants.☆151Updated 3 years ago
- Structural variant toolkit for VCFs☆355Updated last week
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆221Updated 3 years ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆250Updated 10 months ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆196Updated 2 weeks ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆157Updated 2 years ago
- Toolset for SV simulation, comparison and filtering☆378Updated last year
- A minimap2 frontend for PacBio native data formats☆192Updated 2 months ago
- Finder of Somatic Fusion Genes in RNA-seq data☆145Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆196Updated 4 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆375Updated last year
- GATK RNA-Seq Variant Calling in Nextflow☆133Updated 2 years ago
- Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data☆114Updated 3 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆240Updated 6 months ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆159Updated 8 months ago
- ☆272Updated 2 months ago
- Bayesian haplotype-based mutation calling☆312Updated last month
- This Snakemake pipeline implements the GATK best-practices workflow☆253Updated last year
- Nanopore demultiplexing, QC and alignment pipeline☆201Updated this week
- PacBio Secondary Analysis Tools on Bioconda. Contains list of PacBio packages available via conda.☆268Updated 3 months ago
- ☆121Updated 3 weeks ago
- The nimble & robust variant annotator☆178Updated last year
- Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads☆108Updated 2 years ago