Complex structural variant visualization for HiFi sequencing data
☆47Oct 24, 2025Updated 4 months ago
Alternatives and similar repositories for SVTopo
Users that are interested in SVTopo are comparing it to the libraries listed below
Sorting:
- Joint structural variant and copy number variant caller for HiFi sequencing data☆71Nov 4, 2025Updated 4 months ago
- HAT is a set of tools for calling de novo variants from whole-genome sequencing data.☆24Nov 18, 2025Updated 3 months ago
- Expedite large-scale identification of CNVs within predefined genomic regions. Online app available for those with GP2 Tier 2 Access.☆12Jun 13, 2025Updated 8 months ago
- A local-haplotagging-based small and structural variant caller☆95Feb 27, 2026Updated last week
- ☆14Oct 17, 2024Updated last year
- Tandem repeat genotyping from long reads☆20Feb 24, 2026Updated last week
- add true-negative SVs from a population callset to a truth-set.☆15Jun 17, 2022Updated 3 years ago
- Kmer Analysis of Pileups for Genotyping☆37Updated this week
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆55Mar 2, 2026Updated last week
- HitSV: Maximizing discovery of structural variants across sequencing technologies☆25Feb 18, 2026Updated 2 weeks ago
- This tools counts the number of specific k-mers within sequence data. The counts can then be compare to other counts to determine to comp…☆30Nov 25, 2024Updated last year
- A bioinformatics tool for viewing and calculating base modification frequencies from BAM files☆41Updated this week
- Sequencing analysis pipeline☆15Dec 12, 2025Updated 2 months ago
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last week
- Location of public benchmarking; primarily final results☆18Feb 17, 2025Updated last year
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- Hidden Markov Model based Copy number caller☆20Dec 9, 2025Updated 3 months ago
- ☆27Mar 1, 2026Updated last week
- A versatile pairwise aligner for genomic and spliced nucleotide sequences☆24Sep 12, 2025Updated 5 months ago
- HiFi-based caller for highly similar paralogous genes☆61Feb 27, 2026Updated last week
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 3 months ago
- Pipeline to produce consensus reads using unique molecular indexes/barcodes (UMIs)☆27Dec 3, 2025Updated 3 months ago
- ☆28Sep 11, 2025Updated 5 months ago
- Collection of tools for the analysis of CpG data☆108Jul 9, 2025Updated 8 months ago
- Tandem repeat expansion detection or genotyping from long-read alignments☆145Nov 24, 2025Updated 3 months 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
- A battery of methylation tools for PacBio HiFi reads☆49Dec 2, 2025Updated 3 months ago
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- Tool for decomposition centromeric assemblies and long reads into monomers☆37Sep 17, 2022Updated 3 years ago
- Rust library for processing sequencing reads.☆25Sep 2, 2024Updated last year
- ☆27Nov 14, 2025Updated 3 months ago
- CLI to automate Nextflow pipeline testing☆12Dec 15, 2025Updated 2 months ago
- Repository for RecallME-v.0.1 a variant calling pipelines benchmarker and optimizer☆13Dec 18, 2023Updated 2 years ago
- A high-performance BigWig and BigBed library in Rust☆111Feb 13, 2026Updated 3 weeks ago
- Haplotype-specific somatic copy number aberrations/profiling from long reads sequencing data☆70Updated this week
- Structural variant (SV) analysis tools☆40Jul 1, 2024Updated last year
- vcfdist: Accurately benchmarking phased variant calls☆84Feb 23, 2026Updated 2 weeks ago
- Bam Error Stats Tool (best): analysis of error types in aligned reads.☆141Feb 14, 2025Updated last year
- ☆15Apr 2, 2024Updated last year