brentp / dupholdLinks
don't get DUP'ed or DEL'ed by your putative SVs.
☆106Updated 4 years ago
Alternatives and similar repositories for duphold
Users that are interested in duphold are comparing it to the libraries listed below
Sorting:
- Structural Variant Index☆75Updated 7 months ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆78Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆102Updated 4 years ago
- Read visualizer for structural variants☆84Updated 6 years ago
- Toolkit for calling structural variants using short or long reads☆107Updated last week
- A simple toolset for BED files (warning: CLI may change before bedtk becomes stable)☆142Updated 2 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆72Updated 11 months ago
- ☆39Updated last year
- Data and information about the Polaris study☆53Updated 5 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆71Updated last month
- LoFreq Star: Sensitive variant calling from sequencing data☆105Updated 3 years ago
- A suite of tools for detecting expansions of short tandem repeats☆82Updated 2 years ago
- Visualization and annotation of CNVs from population-scale whole-genome sequencing data☆71Updated 7 years ago
- SV caller for nanopore data☆91Updated 5 years ago
- Wally: Visualization of aligned sequencing reads and contigs☆118Updated 3 months ago
- Tools for the analysis of structural variation in genomes☆80Updated last year
- A method for variant graph genotyping based on exact alignment of k-mers☆87Updated 6 years ago
- A snakemake pipeline for SV analysis from nanopore genome sequencing☆51Updated 5 years ago
- Tools and software library developed by the ONT Applications group☆63Updated 4 years ago
- BAM Statistics, Feature Counting and Annotation☆149Updated 2 weeks ago
- TIDDIT - structural variant calling☆75Updated 3 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- igv.js standalone page generator and automatic configuration to view bam/cram/vcf/bed. "working in under 1 minute"☆127Updated 2 years ago
- Fast and accurate coordinate conversion between assemblies☆113Updated 4 months ago
- ☆43Updated 10 months ago
- Web application to collect and visualise data across multiple MultiQC runs.☆97Updated 7 months ago
- 10x Genomics Linked-Read Diploid De Novo Assembler☆65Updated 6 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year
- Support Vector Structural Variation Genotyper☆58Updated 5 years ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆32Updated this week