ga4gh / benchmarking-toolsLinks
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
Sorting:
- VarDict☆198Updated last year
- Annotation and Ranking of Structural Variation☆262Updated 3 weeks ago
- A structural variation pipeline for short-read sequencing☆191Updated this week
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆270Updated 2 months ago
- Structural variation and indel detection by local assembly☆247Updated last month
- A tool set for short variant discovery in genetic sequence data.☆200Updated 4 years ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆320Updated 2 months ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆155Updated 3 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆197Updated last week
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆161Updated 2 years ago
- The nimble & robust variant annotator☆183Updated last year
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆225Updated 3 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆244Updated 9 months ago
- A tool for estimating repeat sizes☆195Updated last year
- This repository contains information about latest release from Genome in a Bottle project☆74Updated 5 years ago
- Count bases in BAM/CRAM files☆319Updated 3 years ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆202Updated 2 weeks ago
- This repository contains data indexes from NIST's Genome in a Bottle project.☆253Updated last year
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆164Updated 11 months ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆256Updated last year
- Tools for processing and analyzing structural variants.☆154Updated 3 years ago
- GATK RNA-Seq Variant Calling in Nextflow☆134Updated 2 years ago
- TransVar - multiway annotator for precision medicine☆126Updated 2 years ago
- Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants …☆173Updated 5 years ago
- ☆284Updated 6 months ago
- Fast and accurate gene fusion detection from RNA-Seq data☆245Updated 2 weeks ago
- This Snakemake pipeline implements the GATK best-practices workflow☆256Updated 2 years ago
- A minimap2 frontend for PacBio native data formats☆202Updated 5 months ago
- SV detection from paired end reads mapping☆117Updated 6 years ago