DEPRECATED - Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads
☆38Sep 27, 2023Updated 2 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:
- Tandem repeat genotyping and visualization from PacBio HiFi data☆136Dec 8, 2025Updated 4 months ago
- A VCF comparison engine for structual variant benchmarking☆24Sep 26, 2025Updated 6 months ago
- ☆12Apr 18, 2022Updated 4 years ago
- Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads☆83Jan 20, 2026Updated 2 months ago
- Collection of tools for the analysis of CpG data☆111Jul 9, 2025Updated 9 months ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- add true-negative SVs from a population callset to a truth-set.☆14Jun 17, 2022Updated 3 years ago
- Copy number caller for long read data including SNV utilization☆69Mar 31, 2025Updated last year
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆21Jan 4, 2026Updated 3 months ago
- ☆12Sep 27, 2023Updated 2 years ago
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Apr 6, 2026Updated last week
- Reducing reference bias using multiple population reference genomes☆34May 27, 2024Updated last year
- ☆20Nov 30, 2023Updated 2 years ago
- Hidden Markov Model based Copy number caller☆20Dec 9, 2025Updated 4 months ago
- TRGT Repeat expansion summary☆10Apr 10, 2023Updated 3 years ago
- 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.
- Structural variant benchmark☆22Mar 4, 2025Updated last year
- Toolkit for calling structural variants using short or long reads☆115Mar 7, 2026Updated last month
- De Bruijn graph construction for large k.☆17Aug 31, 2021Updated 4 years ago
- Transfer HiFi read mappings from their own assembly contigs to a standard reference☆38Dec 30, 2025Updated 3 months ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated last year
- Coronavirus (SARS-Cov-2) sequencing analysis☆10Oct 5, 2021Updated 4 years ago
- ☆14Oct 17, 2024Updated last year
- De novo tandem repeat calling from PacBio HiFi data☆19Dec 5, 2025Updated 4 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆39Mar 25, 2026Updated 3 weeks ago
- 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.
- VNTR annotation using motif selection☆42Updated this week
- A complete diploid human genome☆145Mar 27, 2026Updated 3 weeks ago
- drunk on perbase pileups and lua expressions☆19Nov 15, 2025Updated 5 months ago
- LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads☆103Apr 8, 2026Updated last week
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Nov 28, 2025Updated 4 months ago
- Phased assembly variant caller☆140Dec 4, 2024Updated last year
- HiFi-based caller for highly similar paralogous genes☆64Mar 3, 2026Updated last month
- Ultra rapid nanopore whole genome sequencing pipeline, published in https://www.nature.com/articles/s41587-022-01221-5☆18Jun 28, 2024Updated last year
- A tool for somatic structural variant calling using long reads☆168Apr 9, 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.
- A python wrapper around SURVIVOR☆20Feb 15, 2024Updated 2 years ago
- Structural Variants Assessment Based on Haplotype-resolved Assemblies☆21Apr 28, 2023Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Sep 13, 2023Updated 2 years ago
- Filter fasta/fastq(.gz) files by ID and/or sequence length☆15Feb 8, 2020Updated 6 years ago
- Code for phasing SVs with SNPs☆54Mar 27, 2020Updated 6 years ago
- Transformer-based sequence correction method for genome assembly polishing☆100Mar 11, 2025Updated last year
- A module for improving the insertion sequences of structural variant calls☆33Jul 14, 2021Updated 4 years ago