Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies

Thanks to advances in gene sequencing, <i>RYR1</i>-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large pati...

Full description

Bibliographic Details
Main Authors: Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
<i>RYR1</i>-related myopathies
unsupervised cluster analysis
NGS
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/14/2/298

Internet

https://www.mdpi.com/2073-4425/14/2/298

Similar Items