{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dosi C"],"funding":["FAS Salute 2018","Ministry of Health","Regione Toscana","Italian Ministry of Health-Ricerca Corrente","5×1000","InGene2.0"],"pagination":["298"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9956305"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(2)"],"pubmed_abstract":["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 "],"journal":["Genes"],"pubmed_title":["Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies."],"pmcid":["PMC9956305"],"funding_grant_id":["RF-2013-02359065"],"pubmed_authors":["Dotti MT","Malandrini A","Valente M","Santorelli FM","Filosto M","Astrea G","Giannini F","Donati MA","Galatolo D","Sampaolo S","Moggio M","Maioli MA","Mignarri A","Schenone A","Tasca G","Siciliano G","Tupler R","Bruno C","Gigli GL","Bruno G","Mata S","Messina S","Grandis M","Melani F","Rubegni A","Pennisi EM","Sciacco M","Doccini S","Fiorillo C","Massa R","Volpi N","Ricci G","Lopergolo D","Magri F","Berardinelli A","Sacchini M","Cassandrini D","Baldacci J","Comi GP","Pegoraro E","Tonin P","Dosi C"],"additional_accession":[]},"is_claimable":false,"name":"Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related Myopathies.","description":"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 ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-05-16T03:12:28.141Z","creation":"2025-02-18T23:44:20.327Z"},"accession":"S-EPMC9956305","cross_references":{"pubmed":["36833224"],"doi":["10.3390/genes14020298"]}}