fakedrtom / SVAFotate
☆39Updated 6 months ago
Alternatives and similar repositories for SVAFotate:
Users that are interested in SVAFotate are comparing it to the libraries listed below
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 4 years ago
- Identify and annotate TE-mediated insertions in long-read sequence data☆41Updated last year
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Immuological gene typing and annotation for genome assembly☆32Updated this week
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆35Updated 8 months ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- ☆39Updated 10 months ago
- Variant annotation and merging pipeline☆32Updated 2 months ago
- ☆35Updated 4 years ago
- ☆21Updated 3 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated this week
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- A Nextflow workflow to generate lift over files for any pair of genomes☆56Updated last month
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- ☆22Updated 3 years ago
- EM based transcript abundance from nanopore reads mapped to a transcriptome with minimap2☆59Updated 5 months ago
- Set of tools to manipulate and visualize modified base bam files☆52Updated 2 years ago
- Structural variant caller☆54Updated 3 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- Location of public benchmarking; primarily final results☆18Updated last month
- Working space for the GIAB TR benchmarking project☆21Updated 4 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated 2 weeks ago
- Structural Variant Index☆72Updated 3 months ago
- An insertion caller for Illumina paired-end WGS data.☆23Updated 7 months ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆49Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- ☆21Updated 3 months ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆21Updated this week
- Structural variant VCF annotation, duplicate removal and comparison☆30Updated 3 weeks ago