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

Research output: Chapter in Book/Report/Conference proceedingConference contribution

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.

Original languageEnglish
Title of host publicationHEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019
EditorsRoman Moucek, Ana Fred, Hugo Gamboa
PublisherSciTePress
Pages345-352
Number of pages8
ISBN (Electronic)9789897583537
Publication statusPublished - Jan 1 2019
Event12th International Conference on Health Informatics, HEALTHINF 2019 - Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019 - Prague, Czech Republic
Duration: Feb 22 2019Feb 24 2019

Publication series

NameHEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019

Conference

Conference12th International Conference on Health Informatics, HEALTHINF 2019 - Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019
CountryCzech Republic
CityPrague
Period2/22/192/24/19

Keywords

  • Clustering
  • Congenital Myopathies
  • Gene Sequencing
  • High Throughput Data Analysis
  • Muscular Dystrophies
  • Non Metric Multidimensional Scaling

ASJC Scopus subject areas

  • Biomedical Engineering
  • Electrical and Electronic Engineering

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