Workflows
What is a Workflow?Filters
This workflow runs the FEELnc tool to annotate long non-coding RNAs. Before annotating these long non-coding RNAs, StringTie will be used to assemble the RNA-seq alignments into potential trancriptions. The gffread tool provides a genome annotation file in GTF format.
This workflow shows Flexynesis usage for predicting survival markers from a multi-omics dataset
Associated Tutorial
This workflows is part of the tutorial Identifing Survival Markers of Brain tumor with Flexynesis, available in the GTN
Features
- Includes Galaxy Workflow Tests ...
MRanalysis is an interactive R Shiny application designed for Mendelian randomization analysis.
MRanalysis
Mendelian randomization (MR) has emerged as a powerful epidemiological method for inferring causal relationships between exposures and outcomes using genome-wide association study (GWAS) summary data. By leveraging instrumental variables (IVs), such as single nucleotide polymorphisms (SNPs), MR can revolutionize our understanding of disease etiology, ...
This workflow analyses a given astrophysics text (e.g. Astronomer's Telegram https://astronomerstelegram.org/). It extracts positions of mentioned astronomical sources and provides possible optical counter-parts with photometric data. The corresponding photometric data can be further used to estimate the redshit of the optical sources, that is a measure of the distance between the Earth and the optical source.
Given the fact that the the tool that estimates the photometric redshift is still in ...
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencing
VIsoQLR is an interactive analyzer, viewer and editor for the semi-automated identification and quantification of known and novel isoforms using long-read sequencing data. VIsoQLR is tailored to thoroughly analyze mRNA expression and maturation in low-throughput splicing assays. This tool takes sequences aligned to a reference, defines consensus splice sites, and quantifies ...
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
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Tests