RealTimeGenomics / rtg-tools
RTG Tools: Utilities for accurate VCF comparison and manipulation
☆288Updated 3 months ago
Related projects: ⓘ
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆250Updated 8 months ago
- ☆244Updated last week
- Count bases in BAM/CRAM files☆298Updated 2 years ago
- Repository for the GA4GH Benchmarking Team work developing standardized benchmarking methods for germline small variant calls☆187Updated 3 years ago
- VarDict☆187Updated 8 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆357Updated 9 months ago
- Pilon is an automated genome assembly improvement and variant detection tool☆340Updated 2 years ago
- Plot structural variant signals from many BAMs and CRAMs☆512Updated 2 months ago
- Structural variant toolkit for VCFs☆308Updated last week
- This Snakemake pipeline implements the GATK best-practices workflow☆239Updated last year
- A structural variation pipeline for short-read sequencing☆169Updated this week
- (Not Offical) BBMap short read aligner, and other bioinformatic tools.☆208Updated 3 years ago
- Fast and accurate gene fusion detection from RNA-Seq data☆225Updated 6 months ago
- a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads☆208Updated 2 years ago
- Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data☆205Updated 4 years ago
- Bayesian haplotype-based mutation calling☆302Updated last year
- Variant calling and somatic mutation/CNV detection for next-generation sequencing data☆152Updated last year
- NGMLR is a long-read mapper designed to align PacBio or Oxford Nanopore (standard and ultra-long) to a reference genome with a focus on r…☆287Updated 6 months ago
- Annotation and Ranking of Structural Variation☆210Updated 2 weeks ago
- A flexible framework for rapid genome analysis and interpretation☆312Updated last year
- lumpy: a general probabilistic framework for structural variant discovery☆309Updated 2 years ago
- Workflows for germline short variant discovery with GATK4☆133Updated 3 years ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆426Updated this week
- Toolset for SV simulation, comparison and filtering☆350Updated 9 months ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆191Updated last month
- PacBio Secondary Analysis Tools on Bioconda. Contains list of PacBio packages available via conda.☆249Updated 2 months ago
- Strelka2 germline and somatic small variant caller☆355Updated 2 years ago
- C++ API & command-line toolkit for working with BAM data☆415Updated 2 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆188Updated last year
- Python application to generate self-contained pages embedding IGV visualizations, with no dependency on original input files.☆345Updated last week