The project intends to provide automatic tools for the understanding and the clinical evaluation of
Chromothipsis phenomena, which determine macro-alterations in the structure of human chromosomes, by
combining and amplifying modifications that are typical of a wide class of pathologies. For this reason, the tools
that we intend to develop have a general relevance. The problem that will be addressed concerns with the
reconstruction of the basic changes that transform a normal genome in a disordered pathological one. The
mathematical formulation of this problem is very old and goes back to the middle of 19th century. However,
the classical approach is not appropriate in the case of genomes for two main reasons: the huge size of
genomes and the way they are identified (by means of biomolecular and computational procedures). The
sequences of human chromosomes are “genomic texts” that rule the cell functions and contain the
information that is passed to future generations. The tools of computational genomics are “reader” of these
texts, devoted to individuate specific features. We start from the most updated tools currently available, in
order to develop reliable classification indexes. To this end, it is essential to sequence the altered genomes.
This is provided by our medical partner who will give us the case studies and their expertize. Our genetist,
expert in sequencing, will convert the biological information into symbolic sequences, that is, into data that the
informaticians, supported by our partner, expert in automated pipeline, can process automatically in order to
validate the algorithms to be developed.