WGLab / PhenoSV
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
☆16Updated 2 weeks ago
Alternatives and similar repositories for PhenoSV:
Users that are interested in PhenoSV are comparing it to the libraries listed below
- Structural variant merging tool☆49Updated 6 months ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆35Updated 8 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated 2 months ago
- DNA methylation analysis downstream to Nanopolish for Oxford Nanopore DNA sequencing datasets☆34Updated 4 years ago
- ☆39Updated 5 months ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago
- Population-wide Deletion Calling☆35Updated 5 months ago
- ☆15Updated 3 weeks ago
- ☆29Updated 2 years ago
- Working space for the GIAB TR benchmarking project☆21Updated 4 months ago
- ☆21Updated 2 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆29Updated this week
- Variant annotation and merging pipeline☆31Updated last month
- A tutorial on structural variant calling for short read sequencing data☆29Updated 4 months ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆18Updated last year
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- Tools for merging Tandem Repeat VCF files☆28Updated 2 weeks ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- CADD-SV – a framework to score the effect of structural variants☆14Updated last month
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated last year
- A Nextflow workflow to generate lift over files for any pair of genomes☆56Updated 2 weeks ago
- Upscaling SV detection to a multi-population level.☆22Updated 4 years ago
- Automated Detection and Qualification of Differential Methylation☆11Updated last year
- Snakemake workflow for Illumina RNA-sequencing experiments - extract population genomic signals from RNA-Seq data☆18Updated 2 months ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆22Updated 2 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 weeks ago
- Structural variant discovery and genotyping from mapped PacBio HiFi data☆40Updated last week
- ☆23Updated 5 years ago
- DNA methylation analysis downstream to Nanopolish for Oxford Nanopore DNA sequencing datasets☆28Updated last year