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dc.contributor.authorKouři,l Štěpán
dc.contributor.authorde Sousa, Julie
dc.contributor.authorFačevicová Kamila
dc.contributor.authorGardlo, Alžběta
dc.contributor.authorMuehlmann, Christoph
dc.contributor.authorNordhausen, Klaus
dc.contributor.authorFriedecký, David
dc.contributor.authorAdam, Tomáš
dc.date.accessioned2023-11-01T13:48:01Z
dc.date.available2023-11-01T13:48:01Z
dc.date.issued2023
dc.identifier.citationKouři,l Štěpán, de Sousa, Julie, Fačevicová Kamila, Gardlo, Alžběta, Muehlmann, Christoph, Nordhausen, Klaus, Friedecký, David, Adam, Tomáš. (2023). Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges. <i>International Journal of Neonatal Screening</i>, <i>9</i>(4), Article 60. <a href="https://doi.org/10.3390/ijns9040060" target="_blank">https://doi.org/10.3390/ijns9040060</a>
dc.identifier.otherCONVID_194244103
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/91233
dc.description.abstractNewborn screening (NBS) of inborn errors of metabolism (IEMs) is based on the reference ranges established on a healthy newborn population using quantile statistics of molar concentrations of biomarkers and their ratios. The aim of this paper is to investigate whether multivariate independent component analysis (ICA) is a useful tool for the analysis of NBS data, and also to address the structure of the calculated ICA scores. NBS data were obtained from a routine NBS program performed between 2013 and 2022. ICA was tested on 10,213/150 free-diseased controls and 77/20 patients (9/3 different IEMs) in the discovery/validation phases, respectively. The same model computed during the discovery phase was used in the validation phase to confirm its validity. The plots of ICA scores were constructed, and the results were evaluated based on 5sd levels. Patient samples from 7/3 different diseases were clearly identified as 5sd-outlying from control groups in both phases of the study. Two IEMs containing only one patient each were separated at the 3sd level in the discovery phase. Moreover, in one latent variable, the effect of neonatal birth weight was evident. The results strongly suggest that ICA, together with an interpretation derived from values of the “average member of the score structure”, is generally applicable and has the potential to be included in the decision process in the NBS program.en
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofseriesInternational Journal of Neonatal Screening
dc.rightsCC BY 4.0
dc.subject.othernewborn screening
dc.subject.otherindependent component analysis
dc.subject.othermass spectrometry
dc.subject.othermultivariate statistical analysis
dc.subject.otherinborn errors of metabolism
dc.subject.othercompositional data analysis
dc.titleMultivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-202311017255
dc.contributor.laitosMatematiikan ja tilastotieteen laitosfi
dc.contributor.laitosDepartment of Mathematics and Statisticsen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.relation.issn2409-515X
dc.relation.numberinseries4
dc.relation.volume9
dc.type.versionpublishedVersion
dc.rights.copyright© 2023 the Authors
dc.rights.accesslevelopenAccessfi
dc.subject.ysoaineenvaihduntahäiriöt
dc.subject.ysolastentaudit
dc.subject.ysoneonatologia
dc.subject.ysoseulonta
dc.subject.ysoriippumattomien komponenttien analyysi
dc.subject.ysomassaspektrometria
dc.subject.ysovastasyntyneet
dc.subject.ysomonimuuttujamenetelmät
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p6239
jyx.subject.urihttp://www.yso.fi/onto/yso/p2631
jyx.subject.urihttp://www.yso.fi/onto/yso/p9331
jyx.subject.urihttp://www.yso.fi/onto/yso/p11811
jyx.subject.urihttp://www.yso.fi/onto/yso/p38529
jyx.subject.urihttp://www.yso.fi/onto/yso/p10755
jyx.subject.urihttp://www.yso.fi/onto/yso/p3525
jyx.subject.urihttp://www.yso.fi/onto/yso/p2131
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.doi10.3390/ijns9040060
jyx.fundinginformationThis study was funded by the Czech Ministry of Health, project AZV NU20-08-00367 (Š.K., J.D.S., A.G., D.F. and T.A.), the Czech Science Foundation, project 22-15684L (K.F.) and the Austrian Science Fund P31881-N32 (C.M. and K.N.).
dc.type.okmA1


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