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Authors: Marco Calderisi 1 ; Ilaria Ceppa 1 ; Denise Cassandrini 2 ; Rosanna Trovato 2 ; Giulia Bertocci 2 ; Alessandro Tonacci 3 ; Guja Astrea 2 ; Raffaele Conte 3 and Filippo Santorelli 2

Affiliations: 1 Kode Solutions, Pisa, Italy ; 2 IRCCS Fondazione Stella Maris, Pisa, Italy ; 3 IFC-CNR, Pisa, Italy

ISBN: 978-989-758-353-7

Keyword(s): Congenital Myopathies, Muscular Dystrophies, Gene Sequencing, Non Metric Multidimensional Scaling, Clustering, High Throughput Data Analysis.

Abstract: The boundaries between congenital myopathies and muscular dystrophies and other neuromuscular disorders are becoming blurred because of the significant overlap in disease genes, clinical presentations, and histopathological features. Using a MotorPlex7.0 gene panel in massive sequencing, we define disease causative mutations in 76% of our sample. We then analysed the extent of gene information in the data using non metric multidimensional scaling (nMDS), a well-known algorithm for multivariate analysis, and clustering techniques. To perform this analysis, we developed a software that allows for an interactive exploration of the variants dataset and of the results of the nMDS model. Using these techniques, we were able to quickly study a dataset consisting of thousands of variants, identifying groupings of patients based on the presence or absence of specific sets of mutations.

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Paper citation in several formats:
Calderisi, M.; Ceppa, I.; Cassandrini, D.; Trovato, R.; Bertocci, G.; Tonacci, A.; Astrea, G.; Conte, R. and Santorelli, F. (2019). A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies.In Proceedings of the 12th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 5: HEALTHINF, ISBN 978-989-758-353-7, pages 345-352. DOI: 10.5220/0007396003450352

@conference{healthinf19,
author={Marco Calderisi. and Ilaria Ceppa. and Denise Cassandrini. and Rosanna Trovato. and Giulia Bertocci. and Alessandro Tonacci. and Guja Astrea. and Raffaele Conte. and Filippo M. Santorelli.},
title={A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies},
booktitle={Proceedings of the 12th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 5: HEALTHINF,},
year={2019},
pages={345-352},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0007396003450352},
isbn={978-989-758-353-7},
}

TY - CONF

JO - Proceedings of the 12th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 5: HEALTHINF,
TI - A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies
SN - 978-989-758-353-7
AU - Calderisi, M.
AU - Ceppa, I.
AU - Cassandrini, D.
AU - Trovato, R.
AU - Bertocci, G.
AU - Tonacci, A.
AU - Astrea, G.
AU - Conte, R.
AU - Santorelli, F.
PY - 2019
SP - 345
EP - 352
DO - 10.5220/0007396003450352

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