A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient
☆18Mar 2, 2026Updated 3 weeks 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.☆58Mar 20, 2026Updated last week
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 4 months ago
- Compare the quality of multiple genomes, along with their annotations.☆20Updated this week
- This is a repository to help make plots similar to Figure 2 in https://www.biorxiv.org/content/10.1101/388165v3☆13Mar 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
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- A simple observation count database☆11Jan 13, 2026Updated 2 months ago
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 9 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 2 years ago
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆13Updated this week
- Sashimi plots for RNA-seq data using detected transcripts☆31Mar 19, 2026Updated last week
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆14Aug 25, 2025Updated 7 months ago
- Python Scripts for Bioinformatics☆15Apr 24, 2024Updated last year
- DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- Call and score variants from WGS/WES of rare disease patients.☆115Mar 20, 2026Updated last week
- Fine-mapping with infinitesimal effects☆20May 27, 2025Updated 10 months ago
- ☆10Feb 25, 2024Updated 2 years ago
- Dedicated QC-only pipeline for sequencing data. The pipeline will run a (potentially large) set of QC tools and can output global and gro…☆24Updated this week
- A toolkit to calculate polygenic scores using PLINK2, PRS-CS, RapidoPGS, or PRSice2.☆16Aug 16, 2024Updated last year
- Structural variant benchmark☆22Mar 4, 2025Updated last year
- ☆19Feb 27, 2026Updated last month
- Repository☆10Oct 23, 2024Updated last year
- Bare Metal GPUs on DigitalOcean Gradient AI • AdPurpose-built for serious AI teams training foundational models, running large-scale inference, and pushing the boundaries of what's possible.
- Visualization toolkit for differential splicing events☆17Mar 5, 2026Updated 3 weeks ago
- ☆17Jul 19, 2024Updated last year
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago
- Copy number estimation and variant calling for duplicated genes using WGS.☆32Feb 24, 2026Updated last month
- 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☆13Feb 24, 2026Updated last month
- structural variant database software☆48Feb 16, 2026Updated last month
- Trim, Align to genome, Deduplicate, Realign WGS sequencing samples☆17Feb 23, 2026Updated last month
- Code to accompany the "Implications of Topological Imbalance for Representation Learning on Biomedical Knowledge Graphs" (Briefings in B…☆19Feb 11, 2026Updated last month
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click and start building anything your business needs.
- Repository for code used for publications☆30Oct 20, 2025Updated 5 months ago
- An RNA-Seq data exploration tool that shows read map coverage of a gene of interest along with a coloured "electronic fluorescent pictog…☆13Feb 26, 2026Updated last month
- 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…☆38Feb 10, 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 6 months ago
- Gene Prediction using MAKER, CEGMA, SNAP, GENEMARK & AUGUSTUS☆10Jul 20, 2017Updated 8 years ago