An ICT suite of tools for for deep phenotyping and genotype correlation in neuromuscular diseases: the Phenotype module

The clinical profiling of individuals with rare neuromuscular diseases (NMDs) is particularly tricky even for expert eyes, due to the low generalizability of findings given the small number of individuals affected by a specific disease (or subtype). In this scenario, the availability of ICT-based tools collecting data from various sources (clinical, instrumental, etc.), with the ultimate aim to implement and train Artificial Intelligence (AI) – based algorithms helping the clinicians with a better characterization of patients is of utmost importance. In this regard, an accurate definition of the individual phenotypes, perfectly characterizing the patient’s clinical condition, overall, becomes pivotal for both the clinician and the data scientist. To this end, we developed a module specifically dedicated to the phenotype, to be integrated within a comprehensive, cloud-based suite, the Health360 platform. The module allows the clinician to enter data related to neuromuscular examinations, by selecting the single muscular district within a graphical user interface displaying the patient’s silhouette and associated scores related to the functionality of the district (including the MRC Score), but also allows including the codes from the Human Phenotype Ontology (HPO), to reduce subjectivity of data inclusion and, later on, analysis and interpretation. Taken together with the other modules, this part could effectively support the medical doctor in a better clinical characterization of individuals with NMDs, at the same time providing the data scientist with a precious, usable tool for genotype-phenotype correlation in such clinical conditions.

Francesco Sansone, Gianluca Diodato, Maria Cristina Scudellari, Alessandro Tonacci,
Stefano Roccella, Andrea Vannini, Bianca Buchignani, Anna Rubegni, Giulia Ricci, Gabriele Siciliano,
Francesca Torri, Gian Nicola Gallus, Diego Lopergolo, Alessandro Malandrini, Sabrina Matà,
Martina Sperti, Corrado Angelini, Raffaele Conte