GeneDx / scramble
☆36Updated 6 months ago
Related projects ⓘ
Alternatives and complementary repositories for scramble
- Structural Variant Index☆69Updated last week
- Data and information about the Polaris study☆52Updated 4 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆65Updated 2 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆45Updated 4 years ago
- ☆50Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆30Updated this week
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆47Updated 3 years ago
- ☆19Updated 3 years ago
- Toolkit for calling structural variants using short or long reads☆95Updated 2 weeks ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- ☆79Updated 6 months ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆75Updated last year
- Read visualizer for structural variants☆81Updated 6 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆77Updated 8 months ago
- Wally: Visualization of aligned sequencing reads and contigs☆108Updated last month
- ☆39Updated last month
- ENCODE long read RNA-seq pipeline☆44Updated last year
- Fast and accurate coordinate conversion between assemblies☆108Updated last month
- Somatic structural variant caller for long-read data☆47Updated this week
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 4 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆74Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆21Updated last year
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆28Updated 4 months ago
- CNV screening and annotation tool☆24Updated 8 years ago
- Tandem repeat genotyping and visualization from PacBio HiFi data☆105Updated last month
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆65Updated last year
- don't get DUP'ed or DEL'ed by your putative SVs.☆101Updated 3 years ago
- ☆47Updated 2 months ago
- QDNAseq package for Bioconductor☆48Updated 3 months ago