Edoardo Giacopuzzi's Projects
A curated list of awesome Bioinformatics libraries and software.
A framework for deploying self-contained R-based applications to the desktop
Repository to conveniently import small files into GEL environment
Simple gene-set enrichment analysis using hyper-geometric test
An example GitHub Action (CI) to build a Singularity container
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
Templates for HTML pages
nim wrapper for htslib for parsing genomics data files
Miscellaneous tools and useful scripts
Nextflow pipeline for HPO-based prioritization (GADO and Exomiser)
Nextflow variant annotation pipeline
Argument parsing for Nim
convert VCF files to SQL db using Nim language
OBO-formatted ontologies → networkx (Python 3)
Useful bash one-liners for bioinformatics.
List of packages for Nimble
Simple class to interact with PanelApp API
Scripts and data used in PGx project report
Polygenic Transmission Disequilibrium Test (pTDT)
core functions and classes for Python
A simple NN classifier to classify numeric data
Run Rstudio-server with singularity instance
Miscellaneous Scripts
singularity recipes for bioinformatic analysis
Shiny app to interact with SQLite DB
Annotate SV VCF based on regions overlap
Perform intersection on a SV cohort and compute case / control counts
Small utilities used in our SV pipeline
Shiny app to explore and filter annotated variants results from V2
Small R utilities to generate QC report for small variants VCF