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Bioinformatics @IRCC

Genome analysis


Alessandro Fiori


Next Generation Sequencing (NGS) enables rapid sequencing of large stretches of DNA base pairs spanning entire genomes, with some instruments capable of producing hundreds of gigabases of data in a single sequencing run.

The NGS data management and analysis are complex and include:

  • sequence alignment
  • assembly of sequencing reads
  • quantification of read counts to provide information about gene expression levels
  • ad-hoc data structures to store raw data and analysis results


  • innovative approaches to analyze next generation sequencing data of human genomes
  • analytical algorithms to identify genetic variants in tumors and in the blood of patients
  • implementation and optimization of analytical algorithms for identification and classification of genetic variants in paired comparative tests
  • development of software environment to define new analysis pipeline