Workflows
What is a Workflow?Filters
Workflow for long read quality control, contamination filtering, assembly, variant calling and annotation.
Steps:
- Preprocessing of reference file : https://workflowhub.eu/workflows/1818
- LongReadSum before and after filtering (read quality control)
- Filtlong filter on quality and length
- Flye assembly
- Minimap2 mapping of reads and assembly
- Clair3 variant calling of reads
- Freebayes variant calling of assembly
- Optional Bakta annotation of genomes with no reference
- SnpEff building ...
**Workflow for preprocessing a reference file. **
Steps: -When a GenBank file is not provided, it is downloaded from NCBI based on a accession number. -When multiple plasmid GenBank files are provided, they are merged into one file. -When any amount of plasmid GenBank files are provided, the reference is merged with the plasmid GenBank file(s) into one file. A FASTA file is also extracted. -When no plasmid Genbank files are provided, a FASTA file is extracted from the reference GenBank file. -A ...
PriorR
Priorr is a prioritization program of disease-linked genetic variants devoloped within the Genetics&Genomics Department of La Fundacion Jimenez Diaz University Hospital. Priorr is conceived to analyse the output of the FJD-pipeline of SNVs or CNVs. This software program offers a number of useful functionalities for variant analysis such as: filtering by a virtual panel of genes. manual control of different population frequencies or pathogenicity predictors or filtering out variants ...
GLOWgenes
Prioritization of gene diseases candidates by disease-aware evaluation of heterogeneous evidence networks Visit www.glowgenes.org for more information
Citing
de la Fuente L, Del Pozo-Valero M, Perea-Romero I, Blanco-Kelly F, Fernández-Caballero L, Cortón M, Ayuso C, Mínguez P. Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks. International Journal of Molecular Sciences. 2023; 24(2):1661. ...
WHALE: (W)orkflow for (H)uman-genome (A)nalysis of (L)ong-read (E)xperiments
Introduction
WHALE is a bioinformatics pipeline based on Nextflow and nf-core for long-read DNA sequencing analysis. It takes a samplesheet as input and performs quality control, alignment, variant calling and annotation.
Pipeline summary
PARROT-FJD
Pipeline of Analysis and Research of Rare diseases Optimized in Tblab - Fundación Jiménez Díaz. This is a germline variant calling pipeline implemented in Nextflow which performs mapping, SNV/INDEL calling and annotation, and CNV calling and annotation for targeted sequencing (gene panels and WES) and whole genome sequencing.
How to run this pipeline
The different tasks previously mention are divided into different workflows which are specified usig the --analysis flag followed
...
NanoFreeLunch
Detecting DNA modifications quantitatively from Nanopore data without using raw signals.
Installation
- Install Julia from https://julialang.org/. Do Not use Julia in containers like docker or singularity.
- Enter the folder of NanoFreeLunch and type
julia setup.jl. - The executable can be found in build/bin/, add the folder to PATH or add softlink of the executable to the folder in your PATH.
Warning: you might experience slow package downloading or get error like ...
[!NOTE] All data files in the
src/ethos/tokenize/mapsdirectory are under the CC0 public domain waiver.
ETHOS - EHR foundation model
This repository implements Adaptive Risk Estimation System (ARES) for Hospital Mortality, ICU Admission, Prolonged Length of Stay, and Composite (HM+IU+PLoS). In addition, it contains all the experiments conducted in our paper (preprint). It builds on our previous work on EHR foundation models by completely reimplementing ...
Classification and visualization of ITS regions.
Associated Tutorial
This workflows is part of the tutorial MGnify v5.0 Amplicon Pipeline, available in the GTN
Features
- Includes a Galaxy Workflow Report
- Uses ...
The MAPseq to Ampvis workflow processes MAPseq OTU tables and associated metadata for analysis in Ampvis2. This workflow involves reformatting MAPseq output datasets to produce structured output files suitable for Ampvis2.
Associated Tutorial
This workflows is part of the tutorial MGnify v5.0 Amplicon Pipeline, available in the GTN
Features
...