{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T15:57:39Z","timestamp":1772207859727,"version":"3.50.1"},"reference-count":32,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T00:00:00Z","timestamp":1586822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0231000","type":"journal-article","created":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T13:25:43Z","timestamp":1586870743000},"page":"e0231000","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":8,"title":["Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial"],"prefix":"10.1371","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4806-9168","authenticated-orcid":true,"given":"Adam","family":"Kurkiewicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1159-142X","authenticated-orcid":true,"given":"Anneli","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"McIlwaine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah A.","family":"Cumming","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berit","family":"Adam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Krahe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack","family":"Puymirat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Timchenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Ashizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles A.","family":"Thornton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3578-4477","authenticated-orcid":true,"given":"Simon","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John D.","family":"McClure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darren G.","family":"Monckton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2020,4,14]]},"reference":[{"issue":"4","key":"pone.0231000.ref001","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"68","author":"JD Brook","year":"1992","journal-title":"Cell"},{"issue":"4","key":"pone.0231000.ref002","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.bbadis.2014.05.019","article-title":"Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms","volume":"1852","author":"G Meola","year":"2015","journal-title":"Biochimica et Biophysica Acta (BBA)\u2014Molecular Basis of Disease"},{"issue":"3","key":"pone.0231000.ref003","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ncl.2014.04.011","article-title":"Myotonic Dystrophy","volume":"32","author":"CA Thornton","year":"2014","journal-title":"Neurologic Clinics"},{"issue":"1","key":"pone.0231000.ref004","doi-asserted-by":"crossref","first-page":"216","DOI":"10.2353\/ajpath.2009.080520","article-title":"Muscleblind-Like Proteins","volume":"174","author":"I Holt","year":"2009","journal-title":"The American Journal of Pathology"},{"issue":"7","key":"pone.0231000.ref005","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1136\/jnnp.2008.162594","article-title":"Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables","volume":"80","author":"P Cudia","year":"2009","journal-title":"Journal of Neurology, Neurosurgery & Psychiatry"},{"issue":"10","key":"pone.0231000.ref006","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The myotonic dystrophies: molecular, clinical, and therapeutic challenges","volume":"11","author":"B Udd","year":"2012","journal-title":"The Lancet Neurology"},{"issue":"2","key":"pone.0231000.ref007","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1124\/jpet.115.226969","article-title":"Identification and Characterization of Modified Antisense Oligonucleotides Targeting DMPK in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1","volume":"355","author":"SK Pandey","year":"2015","journal-title":"Journal of Pharmacology and Experimental Therapeutics"},{"issue":"6","key":"pone.0231000.ref008","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/ana.23992","article-title":"Splicing biomarkers of disease severity in myotonic dystrophy","volume":"74","author":"M Nakamori","year":"2013","journal-title":"Annals of Neurology"},{"issue":"2","key":"pone.0231000.ref009","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.molcel.2014.08.027","article-title":"Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease","volume":"56","author":"R Batra","year":"2014","journal-title":"Molecular Cell"},{"issue":"12","key":"pone.0231000.ref010","doi-asserted-by":"crossref","first-page":"e1002822","DOI":"10.1371\/journal.pcbi.1002822","article-title":"Chapter 11: Genome-Wide Association Studies","volume":"8","author":"WS Bush","year":"2012","journal-title":"PLoS Computational Biology"},{"key":"pone.0231000.ref011","doi-asserted-by":"crossref","unstructured":"Brody T. Biostatistics\u2014Part I. In: Clinical Trials. Elsevier; 2016. p. 203\u2013226. Available from: https:\/\/doi.org\/10.1016\/b978-0-12-804217-5.00009-6.","DOI":"10.1016\/B978-0-12-804217-5.00009-6"},{"issue":"2","key":"pone.0231000.ref012","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/sim.1425","article-title":"Non-inferiority trials: design concepts and issues\u2014the encounters of academic consultants in statistics","volume":"22","author":"RB D'Agostino","year":"2002","journal-title":"Statistics in Medicine"},{"key":"pone.0231000.ref013","doi-asserted-by":"crossref","unstructured":"du Prel JB, R\u00f6hrig B, Hommel G, Blettner M. Choosing Statistical Tests. Deutsches Aerzteblatt Online. 2010.","DOI":"10.3238\/arztebl.2010.0343"},{"key":"pone.0231000.ref014","article-title":"Accurate Genomic Prediction Of Human Height","author":"L Lello","year":"2017","journal-title":"bioRxiv"},{"issue":"1","key":"pone.0231000.ref015","doi-asserted-by":"crossref","first-page":"16","DOI":"10.3168\/jds.2008-1514","article-title":"Invited Review: Reliability of genomic predictions for North American Holstein bulls","volume":"92","author":"PM VanRaden","year":"2009","journal-title":"Journal of Dairy Science"},{"issue":"13","key":"pone.0231000.ref016","doi-asserted-by":"crossref","first-page":"i171","DOI":"10.1093\/bioinformatics\/btt238","article-title":"Efficient network-guided multi-locus association mapping with graph cuts","volume":"29","author":"CA Azencott","year":"2013","journal-title":"Bioinformatics"},{"issue":"16","key":"pone.0231000.ref017","doi-asserted-by":"crossref","first-page":"3227","DOI":"10.1093\/hmg\/ddt176","article-title":"Dominant effects of the Huntington\u2019s disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy","volume":"22","author":"JM Lee","year":"2013","journal-title":"Human Molecular Genetics"},{"issue":"16","key":"pone.0231000.ref018","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1093\/hmg\/dds185","article-title":"Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity","volume":"21","author":"F Morales","year":"2012","journal-title":"Human Molecular Genetics"},{"issue":"13","key":"pone.0231000.ref019","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1093\/hmg\/ddz055","article-title":"Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes","volume":"28","author":"G Overend","year":"2019","journal-title":"Human Molecular Genetics"},{"issue":"10","key":"pone.0231000.ref020","doi-asserted-by":"crossref","first-page":"e995","DOI":"10.1212\/WNL.0000000000008056","article-title":"Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort","volume":"93","author":"SA Cumming","year":"2019","journal-title":"Neurology"},{"issue":"1","key":"pone.0231000.ref021","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/4.1.1","article-title":"Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses","volume":"4","author":"DG Monckton","year":"1995","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"pone.0231000.ref022","doi-asserted-by":"crossref","first-page":"18","DOI":"10.3390\/genes9010018","article-title":"Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20","volume":"9","author":"M Rexiati","year":"2018","journal-title":"Genes"},{"issue":"11","key":"pone.0231000.ref023","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1093\/bioinformatics\/btp163","article-title":"Biopython: freely available Python tools for computational molecular biology and bioinformatics","volume":"25","author":"PJA Cock","year":"2009","journal-title":"Bioinformatics"},{"key":"pone.0231000.ref024","unstructured":"Kurkiewicz A. Parser for Affy CEL file version 4; 2016. Available from: https:\/\/github.com\/biopython\/biopython\/commit\/6c14a26dda32ad6d3147036a01f3d0c4d306c647."},{"key":"pone.0231000.ref025","unstructured":"Kurkiewicz A. DMBDI explorer; 2019. Available from: http:\/\/dmbdi.adamkurkiewicz.com."},{"key":"pone.0231000.ref026","unstructured":"Kurkiewicz A. DMBDI explorer walk-through video; 2019. Available from: https:\/\/youtu.be\/gvs5XtdYwE0."},{"issue":"D1","key":"pone.0231000.ref027","doi-asserted-by":"crossref","first-page":"D802","DOI":"10.1093\/nar\/gkx1011","article-title":"Ensembl Genomes 2018: an integrated omics infrastructure for non-vertebrate species","volume":"46","author":"PJ Kersey","year":"2017","journal-title":"Nucleic Acids Research"},{"key":"pone.0231000.ref028","volume-title":"Statistical Methods for Research Workers","author":"RA Fisher","year":"1934"},{"key":"pone.0231000.ref029","unstructured":"Affymetrix. GeneChip\u00ae Exon Array Design; 2005. Available from: http:\/\/tools.thermofisher.com\/content\/sfs\/brochures\/exon_array_design_technote.pdf."},{"issue":"3","key":"pone.0231000.ref030","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.nmd.2013.11.001","article-title":"Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies","volume":"24","author":"LL Bachinski","year":"2014","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"pone.0231000.ref031","doi-asserted-by":"crossref","first-page":"315","DOI":"10.3233\/JND-180318","article-title":"MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders","volume":"5","author":"S Lassche","year":"2018","journal-title":"Journal of Neuromuscular Diseases"},{"issue":"17","key":"pone.0231000.ref032","doi-asserted-by":"crossref","first-page":"4672","DOI":"10.1021\/ac034241b","article-title":"Effects of Atmospheric Ozone on Microarray Data Quality","volume":"75","author":"TL Fare","year":"2003","journal-title":"Analytical Chemistry"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0231000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T13:26:31Z","timestamp":1586870791000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0231000"}},"subtitle":[],"editor":[{"given":"Ruben","family":"Artero","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,4,14]]},"references-count":32,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4,14]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0231000","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/728881","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,14]]}}}