Edoardo Giacopuzzi's repositories
GREEN-VARAN
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
Awesome-Bioinformatics
A curated list of awesome Bioinformatics libraries and software.
gene-set-enrichment
Simple gene-set enrichment analysis using hyper-geometric test
NF_HPO_prioritize
Nextflow pipeline for HPO-based prioritization (GADO and Exomiser)
sqlite-shiny
Shiny app to interact with SQLite DB
SV_annotation
Annotate SV VCF based on regions overlap
DesktopDeployR
A framework for deploying self-contained R-based applications to the desktop
GEL_import
Repository to conveniently import small files into GEL environment
github-ci
An example GitHub Action (CI) to build a Singularity container
HTML_playground
Templates for HTML pages
misc_tools
Miscellaneous tools and useful scripts
nf-website
Nextflow public web site
NF_variant_annotation
Nextflow variant annotation pipeline
nim-argparse
Argument parsing for Nim
nim_VCF2sql
convert VCF files to SQL db using Nim language
packages
List of packages for Nimble
PanelApp_tools
Simple class to interact with PanelApp API
quick_classify
A simple NN classifier to classify numeric data
RStudio_server_singularity
Run Rstudio-server with singularity instance
Singularity_images
singularity recipes for bioinformatic analysis
SV_intersect
Perform intersection on a SV cohort and compute case / control counts
Variant_explorer
Shiny app to explore and filter annotated variants results from V2
VCF_QC_report
Small R utilities to generate QC report for small variants VCF
VCF_toolbox
Small set of utility we use to manipulate VCF, written in nim for speed