biostudies-literatureDosi CFAS Salute 2018Ministry of HealthRegione ToscanaItalian Ministry of Health-Ricerca Corrente5×1000InGene2.0298https://www.ebi.ac.uk/biostudies/studies/S-EPMC9956305biostudies-literatureUnknown14(2)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 patient population. The objective was to analyze the main <i>RYR1</i>-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype-phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in <i>RYR1</i>. In an attempt to group genetic variants and fully exploit information GenesUsing Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies.PMC9956305RF-2013-02359065Dotti MTMalandrini AValente MSantorelli FMFilosto MAstrea GGiannini FDonati MAGalatolo DSampaolo SMoggio MMaioli MAMignarri ASchenone ATasca GSiciliano GTupler RBruno CGigli GLBruno GMata SMessina SGrandis MMelani FRubegni APennisi EMSciacco MDoccini SFiorillo CMassa RVolpi NRicci GLopergolo DMagri FBerardinelli ASacchini MCassandrini DBaldacci JComi GPPegoraro ETonin PDosi CfalseUsing 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 patient population. The objective was to analyze the main <i>RYR1</i>-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype-phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in <i>RYR1</i>. In an attempt to group genetic variants and fully exploit information 2023-01-01T00:00:00Z2023 Jan2026-05-16T03:12:28.141Z2025-02-18T23:44:20.327ZS-EPMC99563053683322410.3390/genes14020298