DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads
☆38Sep 27, 2023Updated 3 years ago
Alternatives and similar repositories for pb-human-wgs-workflow-snakemake
Users that are interested in pb-human-wgs-workflow-snakemake are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Hidden Markov Model based Copy number caller☆20Jul 18, 2026Updated 3 months ago
- Tandem repeat genotyping and visualization from PacBio HiFi data☆146Jun 10, 2026Updated 5 months ago
- ☆10Jul 2, 2026Updated 4 months ago
- A VCF comparison engine for structual variant benchmarking☆24Sep 26, 2025Updated last year
- Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads☆88Oct 28, 2026Updated last week
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing☆10Sep 8, 2026Updated 2 months ago
- ☆12Sep 27, 2023Updated 3 years ago
- ☆20Nov 30, 2023Updated 2 years ago
- add true-negative SVs from a population callset to a truth-set.☆14Jun 17, 2022Updated 4 years ago
- ☆12Apr 18, 2022Updated 4 years ago
- Copy number caller for long read data including SNV utilization☆72Mar 31, 2025Updated last year
- Collection of tools for the analysis of CpG data☆115Jul 9, 2025Updated last year
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18May 4, 2026Updated 6 months ago
- ☆24Updated this week
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆37Sep 13, 2023Updated 3 years ago
- TRGT Repeat expansion summary☆10Apr 10, 2023Updated 3 years ago
- Reducing reference bias using multiple population reference genomes☆34May 27, 2024Updated 2 years ago
- A structural variant filtering and prioritization tool for long-read sequencing data☆49Aug 26, 2026Updated 2 months ago
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆23Jul 23, 2026Updated 3 months ago
- Structural variant benchmark☆25Mar 4, 2025Updated last year
- Toolkit for calling structural variants using short or long reads☆120Oct 30, 2026Updated last week
- De Bruijn graph construction for large k.☆17Aug 31, 2021Updated 5 years ago
- Coronavirus (SARS-Cov-2) sequencing analysis☆10Oct 5, 2021Updated 5 years ago
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- Generate random test data for bioinformatics☆27Jun 17, 2024Updated 2 years ago
- VNTR annotation using motif selection☆44Oct 23, 2026Updated 2 weeks ago
- Copy number variant caller and depth visualization utility for PacBio HiFi reads☆51Oct 22, 2024Updated 2 years ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated 2 years ago
- HiFi-based caller for highly similar paralogous genes☆78Sep 25, 2026Updated last month
- A complete diploid human genome☆163Oct 19, 2026Updated 3 weeks ago
- End-to-end provenance tracking throughout transcript merging and interpretation☆19Oct 28, 2026Updated last week
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- ☆24Aug 8, 2022Updated 4 years ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- Filter fasta/fastq(.gz) files by ID and/or sequence length☆14Feb 8, 2020Updated 6 years ago
- De novo tandem repeat calling from PacBio HiFi data☆19Oct 1, 2026Updated last month
- ☆14Oct 17, 2024Updated 2 years ago
- Ultra rapid nanopore whole genome sequencing pipeline, published in https://www.nature.com/articles/s41587-022-01221-5☆18Jun 28, 2024Updated 2 years ago
- A method to locate variation clusters☆11Nov 27, 2025Updated 11 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆39Mar 25, 2026Updated 7 months ago
- Phased assembly variant caller☆147Dec 4, 2024Updated last year
Are these results useful?