Tumor-normal variant calling workflow using HiFi reads
☆31Mar 4, 2026Updated 4 months ago
Alternatives and similar repositories for HiFi-somatic-WDL
Users that are interested in HiFi-somatic-WDL are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Structural Variants Assessment Based on Haplotype-resolved Assemblies☆21Apr 28, 2023Updated 3 years ago
- Haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data☆80Jun 18, 2026Updated 3 weeks ago
- ☆30Mar 1, 2026Updated 4 months ago
- ClairS-TO - a deep-learning method for tumor-only somatic variant calling☆92Jul 1, 2026Updated last week
- MethPhaser: methylation-based haplotype phasing of human genomes☆55Mar 5, 2025Updated last year
- End-to-end encrypted cloud storage - Proton Drive • AdSpecial offer: 40% Off Yearly / 80% Off First Month. Protect your most important files, photos, and documents from prying eyes.
- Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads☆86May 27, 2026Updated last month
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆14Apr 9, 2022Updated 4 years ago
- A tool for somatic structural variant calling using long reads☆174Jun 8, 2026Updated last month
- ☆40Jan 14, 2026Updated 5 months ago
- Kmer Analysis of Pileups for Genotyping☆40Mar 6, 2026Updated 4 months ago
- Joint structural variant and copy number variant caller for HiFi sequencing data☆78Nov 4, 2025Updated 8 months ago
- ☆129Updated this week
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆29Sep 21, 2024Updated last year
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆40May 19, 2026Updated last month
- 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.
- A long-read analysis toolbox for cancer and population genomics☆23Jul 1, 2025Updated last year
- Telomere-to-Telomere diploid Indian Genome☆15Mar 5, 2026Updated 4 months ago
- ☆14May 2, 2025Updated last year
- LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads☆105Jun 25, 2026Updated 2 weeks ago
- Copy number caller for long read data including SNV utilization☆69Mar 31, 2025Updated last year
- ☆85Mar 3, 2025Updated last year
- Detecting genome structural variants with deep learning in single molecule sequencing☆116Apr 9, 2025Updated last year
- Toolkit for calling structural variants using short or long reads☆115Jun 15, 2026Updated 3 weeks ago
- Convert VCF (Variant Call Format) into TCGA MAF (Mutation Annotation Format)☆15Jul 15, 2016Updated 9 years ago
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- ☆44Sep 10, 2024Updated last year
- This repository contains the reference genome assembly Ash1, built from data collected from an Ashkenazi individual.☆12Feb 2, 2022Updated 4 years ago
- A battery of methylation tools for PacBio HiFi reads☆52Jun 2, 2026Updated last month
- FamDB file format library and utilities☆44Jun 1, 2026Updated last month
- Functions to compare a SV call sets against a truth set.☆32Jun 18, 2025Updated last year
- High-fidelity 5mC DNA methylation detection model for PacBio HiFi reads☆13Apr 10, 2026Updated 2 months ago
- ClairS - a deep-learning method for long-read somatic small variant calling☆110Jul 1, 2026Updated last week
- Phased assembly variant caller☆141Dec 4, 2024Updated last year
- Long read aligner☆115May 26, 2023Updated 3 years ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- SNP-Assisted SV Calling and Phasing Using ONT☆25Jul 9, 2023Updated 3 years ago
- ☆11Dec 9, 2022Updated 3 years ago
- ☆11May 12, 2021Updated 5 years ago
- Code associated with the manuscript "A complete reference genome improves analysis of human genetic variation".☆17Jan 17, 2023Updated 3 years ago
- VarIant SimulatOR for short, long and linked reads☆54Oct 21, 2024Updated last year
- Public Benchmark of Long-Read Structural Variant Caller on ONT PromethION Data☆14Nov 28, 2019Updated 6 years ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆36Oct 27, 2025Updated 8 months ago