monarch-initiative / SvAnnaLinks
Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing
☆37Updated last year
Alternatives and similar repositories for SvAnna
Users that are interested in SvAnna are comparing it to the libraries listed below
Sorting:
- Variant annotation and merging pipeline☆39Updated last month
- Code for phasing SVs with SNPs☆52Updated 5 years ago
- ☆48Updated last year
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆30Updated 4 months ago
- Working space for the GIAB TR benchmarking project☆21Updated 10 months ago
- ☆81Updated 5 months ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆49Updated 5 months ago
- Joint structural variant and copy number variant caller for HiFi sequencing data☆59Updated this week
- ☆31Updated last year
- A battery of methylation tools for PacBio HiFi reads☆40Updated last month
- MethPhaser: methylation-based haplotype phasing of human genomes☆48Updated 5 months ago
- Copy number variant caller and depth visualization utility for PacBio HiFi reads☆43Updated 10 months ago
- ☆36Updated last year
- MarginPolish: Graph based assembly polishing☆46Updated 4 years ago
- Structural variant merging tool☆53Updated last year
- Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.☆32Updated 2 years ago
- ☆23Updated last month
- SV genotyping with long reads☆39Updated 2 years ago
- Copy number caller for long read data including SNV utilization☆66Updated 5 months ago
- Set of tools to manipulate and visualize modified base bam files☆56Updated 3 years ago
- Segmental Duplication Assembler (SDA).☆44Updated 2 years ago
- python plotly Circos from VCF☆38Updated last year
- SV calling for diploid assemblies☆28Updated last year
- ☆22Updated 4 years ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆68Updated 2 months ago
- Improved structural variant discovery in accurate long reads using sample-specific strings (SFS)☆44Updated 2 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads☆39Updated last year
- Error correction of ONT transcript reads☆58Updated last year
- DNA methylation analysis downstream to Nanopolish for Oxford Nanopore DNA sequencing datasets☆29Updated 2 years ago