ga4gh / benchmarking-toolsLinks
Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls
☆205Updated 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☆277Updated 5 months ago
- Structural variation and indel detection by local assembly☆248Updated last month
- VarDict☆199Updated last year
- A structural variation pipeline for short-read sequencing☆194Updated this week
- Annotation and Ranking of Structural Variation☆263Updated 3 weeks ago
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆327Updated 5 months ago
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆230Updated 3 years ago
- A tool for estimating repeat sizes☆198Updated last year
- Workflows for processing high-throughput sequencing data for variant discovery with GATK4 and related tools☆158Updated 3 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆199Updated 2 months ago
- A tool set for short variant discovery in genetic sequence data.☆202Updated 4 years ago
- tools for adding mutations to existing .bam files, used for testing mutation callers☆246Updated last year
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆163Updated 2 years ago
- Count bases in BAM/CRAM files☆319Updated 3 years ago
- Workflows for germline short variant discovery with GATK4☆138Updated 4 years ago
- Bayesian haplotype-based mutation calling☆319Updated last month
- structural variant calling and genotyping with existing tools, but, smoothly.☆258Updated last year
- The nimble & robust variant annotator☆185Updated last year
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆197Updated 2 years ago
- This repository contains data indexes from NIST's Genome in a Bottle project.☆258Updated last year
- Fast and accurate gene fusion detection from RNA-Seq data☆248Updated last month
- a python extension of CNVnator -- a tool for CNV analysis from depth-of-coverage by mapped reads☆205Updated 3 weeks ago
- Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants …☆174Updated 5 years ago
- Tools for processing and analyzing structural variants.☆154Updated 3 years ago
- This Snakemake pipeline implements the GATK best-practices workflow☆260Updated 2 years ago
- Reads simulator☆282Updated 4 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- Control-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data☆172Updated last year
- Pipeline for differential gene expression (DGE) and differential transcript usage (DTU) analysis using long reads☆109Updated 2 years ago
- classify, merge, tracking and annotation of GFF files by comparing to a reference annotation GFF☆245Updated 3 months ago