CNV analysis based on the depth of coverage of Illumina data

Human gene annotations for the oncology domain

Virtual gene panel integration for Parkinson's Disease. This workflow collects, filters, and enriches gene panels with genomic features from NCBI, producing ready-to-use BED files.

Simple perl script to extract mappability from a ROI file

Integrated analysis of Structural and Copy Number Variants for HTS

GUI coupled to a local database that centralize all NGS variant data and annotations, and to provide powerful filtering tools that are easily accessible to the biologist.