We develop bioinformatic softwares available as web services, RESTful APIs and command line tools
A collection of genomic, clinical and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes
A Python package and a command-line tool that eases the analysis of graphs
A tool for the automated functional annotation of human Copy Number Variants using information about protein coding and protein non-coding genes and regulatory regions
A tool to explore, analyze and validate oscillatory rhythms across transcriptomes
● Framing and modeling biological events through formal and standard languages
● Analyzing structural, static and dynamic properties (topology inspection, Importance ranking, logic properties verification, pedigree analysis)
● Simulating complex macro-events
● Planning and scheduling experimental workflows
● Efficiently handling and managing biological data
● NGS data analysis (mapping, targeted resequencing, exon counting, small InDels, SNPs, CNVs and fusion splicing finding)
● Microarray data analysis (pre-processing, segmentation and CNVs finding, allele-specific genotyping)
● Analysis of the potential risks of the genetic mutations according to protein structure changes and to ancestral conservation evidences