genomic-medicine-sweden / tomteView external linksLinks
A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient
☆18Nov 14, 2025Updated 3 months ago
Alternatives and similar repositories for tomte
Users that are interested in tomte are comparing it to the libraries listed below
Sorting:
- 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
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆43Feb 10, 2026Updated last week
- Bacterial typing pipeline for clinical NGS data. Written in NextFlow, Python & Bash.☆12Feb 6, 2026Updated last week
- ☆10Feb 25, 2024Updated last year
- Python Scripts for Bioinformatics☆15Apr 24, 2024Updated last year
- A simple observation count database☆11Jan 13, 2026Updated last month
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 7 months ago
- ☆12Feb 19, 2021Updated 4 years ago
- This is a repository to help make plots similar to Figure 2 in https://www.biorxiv.org/content/10.1101/388165v3☆13Mar 14, 2019Updated 6 years ago
- Visualization toolkit for differential splicing events☆17Nov 3, 2025Updated 3 months ago
- Compare the quality of multiple genomes, along with their annotations.☆20Jan 15, 2026Updated last month
- Trim, Align to genome, Deduplicate, Realign WGS sequencing samples☆17Feb 4, 2026Updated last week
- 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
- Scripts for Hill et al. (2022) doi:10.1093/molbev/msac085 🟣☆11Apr 28, 2023Updated 2 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Nov 18, 2025Updated 2 months ago
- A toolkit to calculate polygenic scores using PLINK2, PRS-CS, RapidoPGS, or PRSice2.☆15Aug 16, 2024Updated last year
- STAR, cufflinks, cluster, DESeq2, GO analysis☆14Jun 27, 2020Updated 5 years ago
- Copy number estimation and variant calling for duplicated genes using WGS.☆32Jan 27, 2026Updated 3 weeks ago
- Sashimi plots for RNA-seq data using detected transcripts☆31Mar 18, 2025Updated 11 months ago
- ☆19Feb 11, 2026Updated last week
- Fine-mapping with infinitesimal effects☆20May 27, 2025Updated 8 months ago
- High throughput sequencing -- Amplicon sequencing, mainly include 16S, 18S and ITS for microbiome analysis☆15Jan 16, 2023Updated 3 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…☆19Updated this week
- ☆18Apr 18, 2024Updated last year
- ☆17Jul 19, 2024Updated last year
- RNAseq analysis with Hisat2, stringtie, and ballgown☆17Aug 9, 2019Updated 6 years ago
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- bioinformatics learning☆13Oct 10, 2023Updated 2 years ago
- My R scripts, primarily R plotting scripts + some genomics software including 16S rRNA metataxnomics and RNAseq☆12Dec 19, 2022Updated 3 years ago
- Repository☆10Oct 23, 2024Updated last year
- ☆24Nov 9, 2017Updated 8 years ago
- Automatised pipeline of ConsensuSV workflow.☆24Aug 23, 2023Updated 2 years ago
- Structural variant benchmark☆22Mar 4, 2025Updated 11 months ago
- ☆23Jul 29, 2025Updated 6 months ago
- A repository containing various scripts useful for performing quality control on data from genome-wide association studies and visualizin…☆20Oct 14, 2017Updated 8 years ago
- ☆10Jan 30, 2020Updated 6 years ago
- Pipeline in place at the UGI for DNA level analysis☆11Aug 29, 2016Updated 9 years ago
- Gene Prediction using MAKER, CEGMA, SNAP, GENEMARK & AUGUSTUS☆10Jul 20, 2017Updated 8 years ago
- ☆10Dec 2, 2025Updated 2 months ago