ga4gh / benchmarking-toolsLinks
Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
☆208Updated 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:
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆280Updated 6 months ago
- VarDict☆201Updated last year
- A structural variation pipeline for short-read sequencing☆197Updated this week
- Annotation and Ranking of Structural Variation☆272Updated 2 months ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆329Updated 6 months ago
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆159Updated 3 years ago
- Structural variation and indel detection by local assembly☆249Updated 2 months ago
- Workflows for germline short variant discovery with GATK4☆139Updated 4 years ago
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆165Updated 2 years ago
- A tool set for short variant discovery in genetic sequence data.☆203Updated 4 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆201Updated 4 months ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆247Updated last year
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆230Updated 3 years ago
- Bayesian haplotype-based mutation calling☆321Updated 2 weeks ago
- Count bases in BAM/CRAM files☆321Updated 3 years ago
- Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants …☆174Updated 5 years ago
- The nimble & robust variant annotator☆188Updated last year
- A tool for estimating repeat sizes☆199Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆204Updated 2 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- This repository contains data indexes from NIST's Genome in a Bottle project.☆259Updated 2 years ago
- Tools for processing and analyzing structural variants.☆155Updated 3 years ago
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆209Updated 2 months ago
- Documentation for the ANNOVAR software☆244Updated 4 months ago
- Finder of Somatic Fusion Genes in RNA-seq data☆148Updated 3 months ago
- Fast and accurate gene fusion detection from RNA-Seq data☆255Updated 2 months ago
- ☆297Updated 2 weeks ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆173Updated last year
- Precision HLA typing from next-generation sequencing data☆205Updated last year
- DRAGEN open-source mapper☆179Updated 2 years ago