GeneDx / scramble
☆39Updated 8 months ago
Alternatives and similar repositories for scramble:
Users that are interested in scramble are comparing it to the libraries listed below
- Structural Variant Index☆70Updated last month
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆66Updated 4 months ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- ENCODE long read RNA-seq pipeline☆44Updated 2 years ago
- Public Benchmark of Long-Read Structural Variant Caller on PacBio CCS HG002 Data☆48Updated 3 years ago
- ☆79Updated 8 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆31Updated last month
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Set of tools to manipulate and visualize modified base bam files☆49Updated 2 years ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- ☆39Updated 4 months ago
- Toolkit for calling structural variants using short or long reads☆100Updated this week
- ☆20Updated 3 years ago
- QDNAseq package for Bioconductor☆49Updated 5 months ago
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 4 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆102Updated 4 years ago
- An R package for estimating poly(A)-tail lengths in Oxford Nanopore RNA and DNA reads.☆54Updated 3 months ago
- Wally: Visualization of aligned sequencing reads and contigs☆110Updated 3 weeks ago
- ☆48Updated 4 months ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆74Updated last year
- EM based transcript abundance from nanopore reads mapped to a transcriptome with minimap2☆57Updated 3 months ago
- Error correction of ONT transcript reads☆58Updated last year
- Structural Variants Pipeline for Long Reads☆44Updated 6 years ago
- Comprehensive benchmark of structural variant callers☆44Updated 3 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- Human reference genome analysis sets☆50Updated last year
- ☆51Updated 2 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆77Updated 2 years ago
- Code for phasing SVs with SNPs☆52Updated 4 years ago