A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies

Marco Calderisi, Ilaria Ceppa, Denise Cassandrini, Rosanna Trovato, Giulia Bertocci, Alessandro Tonacci, Guja Astrea, Raffaele Conte, Filippo M. Santorelli

2019

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.

Paper Citation

in Harvard Style

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 (BIOSTEC 2019) - Volume 5: HEALTHINF; ISBN 978-989-758-353-7, SciTePress, pages 345-352. DOI: 10.5220/0007396003450352

in Bibtex Style

@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 (BIOSTEC 2019) - Volume 5: HEALTHINF},
year={2019},
pages={345-352},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0007396003450352},
isbn={978-989-758-353-7},
}

in EndNote Style

TY - CONF

JO - Proceedings of the 12th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC 2019) - 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
PB - SciTePress