A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient
☆18Apr 1, 2026Updated 2 months ago
Alternatives and similar repositories for tomte
Users that are interested in tomte are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆68Updated this week
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 7 months ago
- Compare the quality of multiple genomes, along with their annotations.☆20Jun 12, 2026Updated last week
- This is a repository to help make plots similar to Figure 2 in https://www.biorxiv.org/content/10.1101/388165v3☆14Mar 14, 2019Updated 7 years ago
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Jun 25, 2019Updated 6 years ago
- 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.
- A simple observation count database☆11Jan 13, 2026Updated 5 months ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 11 months ago
- ☆12Feb 19, 2021Updated 5 years ago
- Automatised pipeline of ConsensuSV workflow.☆24Aug 23, 2023Updated 2 years ago
- Scripts for Hill et al. (2022) doi:10.1093/molbev/msac085 🟣☆11Apr 28, 2023Updated 3 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆14Updated this week
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆15May 27, 2026Updated 3 weeks ago
- Fine-mapping with infinitesimal effects☆20May 5, 2026Updated last month
- Sashimi plots for RNA-seq data using detected transcripts☆34May 1, 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.
- Python Scripts for Bioinformatics☆15Apr 24, 2024Updated 2 years ago
- Call and score variants from WGS/WES of rare disease patients.☆117Updated this week
- ☆10Feb 25, 2024Updated 2 years ago
- (WIP) best-practices workflow for rare disease☆64Jul 1, 2024Updated last year
- Dedicated QC-only pipeline for sequencing data. The pipeline will run a (potentially large) set of QC tools and can output global and gro…☆25Updated this week
- A toolkit to calculate polygenic scores using PLINK2, PRS-CS, RapidoPGS, or PRSice2.☆16Aug 16, 2024Updated last year
- ☆19Apr 24, 2026Updated last month
- Repository☆10Oct 23, 2024Updated last year
- Visualization toolkit for differential splicing events☆17Apr 19, 2026Updated 2 months ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- ☆17Jul 19, 2024Updated last year
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 7 years ago
- This is something I have decided to do to make something good come out of the current covid situation. Here I will put the publicly avail…☆12Sep 6, 2021Updated 4 years ago
- A nextflow pipeline for calling exome CNVs☆14May 28, 2026Updated 3 weeks ago
- structural variant database software☆49May 28, 2026Updated 3 weeks ago
- Structural variant benchmark☆24Mar 4, 2025Updated last year
- Trim, Align to genome, Deduplicate, Realign WGS sequencing samples☆17Feb 23, 2026Updated 3 months ago
- Copy number estimation and variant calling for duplicated genes using WGS.☆36Apr 29, 2026Updated last month
- Repository for code used for publications☆30Apr 23, 2026Updated last month
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- An RNA-Seq data exploration tool that shows read map coverage of a gene of interest along with a coloured "electronic fluorescent pictog…☆13Jun 12, 2026Updated last week
- STAR, cufflinks, cluster, DESeq2, GO analysis☆14Jun 27, 2020Updated 5 years ago
- VueGen automates the creation of reports from bioinformatics outputs, supporting formats like PDF, HTML, DOCX, ODT, PPTX, Reveal.js, Jupy…☆40Apr 29, 2026Updated last month
- High throughput sequencing -- Amplicon sequencing, mainly include 16S, 18S and ITS for microbiome analysis☆15Jan 16, 2023Updated 3 years ago
- Config and setup to run nf-core/raredisease pipeline☆10Sep 11, 2025Updated 9 months ago
- Gene Prediction using MAKER, CEGMA, SNAP, GENEMARK & AUGUSTUS☆10Jul 20, 2017Updated 8 years ago
- Jasmine: SV Merging Across Samples☆253Dec 20, 2024Updated last year