Short-read and long-read sequencing tools for diagnostics
☆180Jul 2, 2026Updated this week
Alternatives and similar repositories for ngs-bits
Users that are interested in ngs-bits are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Medical Genetics Sequence Analysis Pipelines☆91Updated this week
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆95Updated this week
- annotate a VCF with other VCFs/BEDs/tabixed files☆407Jun 16, 2026Updated 2 weeks ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Updated this week
- VarFish: comprehensive DNA variant analysis for diagnostics and research☆53Jun 25, 2026Updated last week
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- ☆27Mar 2, 2026Updated 4 months ago
- ☆13Dec 7, 2021Updated 4 years ago
- ☆19Mar 14, 2022Updated 4 years ago
- fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing☆861May 2, 2026Updated 2 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆73Jun 26, 2023Updated 3 years ago
- A tool for estimating repeat sizes☆215Jan 30, 2024Updated 2 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated last year
- goleft is a collection of bioinformatics tools distributed under MIT license in a single static binary☆227Sep 18, 2025Updated 9 months ago
- Tool to find regions of homozygosity (ROHs) from sequencing data.☆36Jun 17, 2024Updated 2 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.
- A deletion finder through re-aligning the whole soft-clipping read☆12Jul 2, 2016Updated 10 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Sep 4, 2024Updated last year
- tools for adding mutations to existing .bam files, used for testing mutation callers☆251Oct 18, 2024Updated last year
- Quickly calculate and visualize sequence coverage in alignment files☆101Jun 22, 2019Updated 7 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- Basic UPD caller☆12Aug 23, 2021Updated 4 years ago
- C++ library and cmdline tools for parsing and manipulating VCF files with python and zig bindings☆681Mar 20, 2026Updated 3 months ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆81Jun 30, 2025Updated last year
- A new tool to infer sex from massively parallel sequencing data.☆17May 16, 2025Updated last year
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Validated, scalable, community developed variant calling, RNA-seq and small RNA analysis☆1,029Aug 24, 2024Updated last year
- seqcover allows users to view coverage for hundreds of genes and dozens of samples