Human reference genome analysis sets
☆58Jun 17, 2023Updated 2 years ago
Alternatives and similar repositories for ref-gen
Users that are interested in ref-gen are comparing it to the libraries listed below
Sorting:
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated 3 weeks ago
- ☆13Apr 18, 2022Updated 3 years ago
- Pipeline for generating RNAseq-based cancer patient reports☆11Feb 26, 2026Updated last week
- Efficient, parallel compression for terabyte-scale data☆61Feb 25, 2026Updated last week
- ☆23Sep 9, 2025Updated 5 months ago
- A versatile pairwise aligner for genomic and spliced nucleotide sequences☆24Sep 12, 2025Updated 5 months ago
- Constructing a pangenome gene graph☆204Aug 11, 2025Updated 6 months ago
- Easy genomic regions for short-read variant calling☆45Sep 10, 2025Updated 5 months ago
- Identification of structural variations☆12Jul 22, 2022Updated 3 years ago
- Clair3-RNA - a long-read small variant caller for RNA sequencing data☆40Dec 23, 2025Updated 2 months ago
- Targeted genotyper for complex polymorphic genes☆36Updated this week
- LEGACY repository for SODAR Core, preserved for saving review-related issues. See "sodar-core" for the up-to-date repository.☆15Jun 1, 2022Updated 3 years ago
- Targeted and non-targeted anticancer drugs and drug regimens☆30Updated this week
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 5 months ago
- vembrane filters VCF records using python expressions☆68Jan 8, 2026Updated last month
- Integrative analysis of structural variations.☆40Dec 20, 2023Updated 2 years ago
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆29Sep 21, 2024Updated last year
- SV detection tool for nanopore sequence reads☆97Jan 7, 2026Updated last month
- ☆19Apr 15, 2024Updated last year
- MEMO: MEM-based pangenome indexing for k-mer queries☆20Jun 11, 2024Updated last year
- Model files for Sentieon variant callers☆16Feb 24, 2026Updated last week
- Simple pileup-based variant caller☆94Apr 25, 2025Updated 10 months ago
- ☆32Dec 16, 2022Updated 3 years ago
- Indels are not ideal - quick test for interrupted ORFs in bacterial/microbial genomes☆15Jun 26, 2018Updated 7 years ago
- All-FIT - Allele-Frequency-based Imputation of Tumor Purity☆18Oct 5, 2019Updated 6 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆18Apr 2, 2020Updated 5 years ago
- CNV detection tool for targeted NGS panel data☆16Feb 28, 2022Updated 4 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Apr 28, 2025Updated 10 months ago
- Kmer Analysis of Pileups for Genotyping☆36Jan 30, 2026Updated last month
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- Fast, Cache-Efficient, and Scalable Queries on Pangenomes☆36Nov 7, 2025Updated 3 months ago
- vcfdist: Accurately benchmarking phased variant calls☆84Feb 23, 2026Updated last week
- v2.x of the microassembly based somatic variant caller☆23Jul 16, 2025Updated 7 months ago
- ☆20Nov 30, 2023Updated 2 years ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Feb 23, 2026Updated last week
- Complex structural variant visualization for HiFi sequencing data☆47Oct 24, 2025Updated 4 months ago
- Fast FASTX parsing and k-mer methods in Rust☆210Jan 27, 2026Updated last month
- Somatic structural variant caller for long-read data☆89Updated this week
- expressions on VCFs☆91Apr 19, 2025Updated 10 months ago