(WIP) best-practices workflow for rare disease
☆64Jul 1, 2024Updated 2 years ago
Alternatives and similar repositories for rare-disease-wf
Users that are interested in rare-disease-wf are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆28Sep 9, 2026Updated last month
- structural variant database software☆50Jul 31, 2026Updated 2 months ago
- Structural variant (SV) analysis tools☆42Jul 1, 2024Updated 2 years ago
- A nextflow pipeline for calling CNVs in probe-enriched sequencing workflows☆14Aug 17, 2026Updated 2 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆38Sep 13, 2023Updated 3 years ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- using all the bits for echt rapid variant annotation and filtering☆162Jul 22, 2026Updated 2 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆109Dec 14, 2020Updated 5 years ago
- vembrane filters, sorts, and transforms VCF records using python expressions☆70Oct 6, 2026Updated last week
- Structural variant pipeline☆18Jun 25, 2020Updated 6 years ago
- Jasmine: SV Merging Across Samples☆262Dec 20, 2024Updated last year
- Deep learning-based structural variant filtering method☆40Nov 19, 2023Updated 2 years ago
- Scalable genomic analysis pipelines, written in WDL☆12Updated this week
- ☆20Nov 30, 2023Updated 2 years ago
- drunk on perbase pileups and lua expressions☆19Nov 15, 2025Updated 11 months ago
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆91Oct 5, 2026Updated last week
- TIDDIT - structural variant calling☆80Jul 20, 2026Updated 2 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Apr 22, 2026Updated 5 months ago
- ☆36Mar 2, 2021Updated 5 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆23Nov 4, 2024Updated last year
- Plot structural variant signals from many BAMs and CRAMs☆574Jul 13, 2024Updated 2 years ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆190Apr 12, 2024Updated 2 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆59Feb 17, 2022Updated 4 years ago
- Kmer Analysis of Pileups for Genotyping☆43Jul 16, 2026Updated 3 months ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- Sample Contamination Estimate from VCF☆21Nov 6, 2024Updated last year
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆173Mar 24, 2026Updated 6 months ago
- Structural variant benchmark☆25Mar 4, 2025Updated last year
- Bam Error Stats Tool (best): analysis of error types in aligned reads.☆142Feb 14, 2025Updated last year
- genetic variant expressions, annotation, and filtering for great good.☆274May 12, 2026Updated 5 months ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆20Oct 6, 2026Updated last week
- useful command-line tools written to showcase hts-nim☆50Nov 10, 2020Updated 5 years ago
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆341Sep 30, 2026Updated 2 weeks ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆37Oct 27, 2025Updated 11 months ago
- Deploy open-source AI quickly and easily - Special Bonus Offer • AdRunpod Hub is built for open source. One-click deployment and autoscaling endpoints without provisioning your own infrastructure.
- Wally: Visualization of aligned sequencing reads and contigs☆127Jul 10, 2026Updated 3 months ago
- Structural variant VCF annotation, filtering, duplicate removal and comparison☆38Sep 3, 2026Updated last month
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆35Sep 25, 2026Updated 3 weeks ago
- Phenotype driven gene prioritization for HPO☆53Jul 26, 2021Updated 5 years ago
- WDL workflows for variant calling and assembly using ONT☆40Oct 8, 2026Updated last week
- ☆25Jun 5, 2026Updated 4 months ago
- find large indels (in the blind spot between GATK/freebayes and SV callers)☆39Dec 3, 2017Updated 8 years ago