edg1983
Senior Bioinformatician in the genome analysis unit at Human Technopole. WGS analysis exploring non-coding and the dark side of the genome.
Human TechnopoleMilan, Italy
Pinned Repositories
Awesome-Bioinformatics
A curated list of awesome Bioinformatics libraries and software.
DesktopDeployR
A framework for deploying self-contained R-based applications to the desktop
GEL_import
Repository to conveniently import small files into GEL environment
gene-set-enrichment
Simple gene-set enrichment analysis using hyper-geometric test
GREEN-VARAN
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
NF_HPO_prioritize
Nextflow pipeline for HPO-based prioritization (GADO and Exomiser)
oneliners
Useful bash one-liners for bioinformatics.
sqlite-shiny
Shiny app to interact with SQLite DB
SV_annotation
Annotate SV VCF based on regions overlap
WGS_pipeline
edg1983's Repositories
edg1983/GREEN-VARAN
Annotate non-coding regulatory vars using our GREEN-DB, prediction scores, conservation and pop AF
edg1983/oneliners
Useful bash one-liners for bioinformatics.
edg1983/WGS_pipeline
edg1983/Awesome-Bioinformatics
A curated list of awesome Bioinformatics libraries and software.
edg1983/gene-set-enrichment
Simple gene-set enrichment analysis using hyper-geometric test
edg1983/NF_HPO_prioritize
Nextflow pipeline for HPO-based prioritization (GADO and Exomiser)
edg1983/sqlite-shiny
Shiny app to interact with SQLite DB
edg1983/SV_annotation
Annotate SV VCF based on regions overlap
edg1983/DesktopDeployR
A framework for deploying self-contained R-based applications to the desktop
edg1983/GEL_import
Repository to conveniently import small files into GEL environment
edg1983/github-ci
An example GitHub Action (CI) to build a Singularity container
edg1983/HTML_playground
Templates for HTML pages
edg1983/hts-nim
nim wrapper for htslib for parsing genomics data files
edg1983/misc_tools
Miscellaneous tools and useful scripts
edg1983/NF_variant_annotation
Nextflow variant annotation pipeline
edg1983/nim-argparse
Argument parsing for Nim
edg1983/nim_VCF2sql
convert VCF files to SQL db using Nim language
edg1983/obonet
OBO-formatted ontologies → networkx (Python 3)
edg1983/packages
List of packages for Nimble
edg1983/PanelApp_tools
Simple class to interact with PanelApp API
edg1983/PGx_project
Scripts and data used in PGx project report
edg1983/pyCore
core functions and classes for Python
edg1983/quick_classify
A simple NN classifier to classify numeric data
edg1983/RStudio_server_singularity
Run Rstudio-server with singularity instance
edg1983/Singularity_images
singularity recipes for bioinformatic analysis
edg1983/SV_intersect
Perform intersection on a SV cohort and compute case / control counts
edg1983/SV_utils
Small utilities used in our SV pipeline
edg1983/Variant_explorer
Shiny app to explore and filter annotated variants results from V2
edg1983/VCF_QC_report
Small R utilities to generate QC report for small variants VCF
edg1983/VCF_toolbox
Small set of utility we use to manipulate VCF, written in nim for speed