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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of <i>LDLr</i> Missense Variants.

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第一作者： Asier,Larrea-Sebal

第一单位： Fundación Biofísica Bizkaia, Leioa, Spain.;Instituto Biofisika (UPV/EHU, CSIC), University of the Basque Country, Leioa, Spain.

作者： Asier,Larrea-Sebal ^[1] ; Asier,Benito-Vicente ^[2] ; José A,Fernandez-Higuero ^[3] ; Shifa,Jebari-Benslaiman ^[2] ; Unai,Galicia-Garcia ^[1] ; Kepa B,Uribe ^[4] ; Ana,Cenarro ^[5] ; Helena,Ostolaza ^[2] ; Fernando,Civeira ^[5] ; Sonia,Arrasate ^[6] ; Humberto,González-Díaz ^[7] ; César,Martín ^[2]

作者单位： Fundación Biofísica Bizkaia, Leioa, Spain.;Instituto Biofisika (UPV/EHU, CSIC), University of the Basque Country, Leioa, Spain. ^[1] Instituto Biofisika (UPV/EHU, CSIC), University of the Basque Country, Leioa, Spain.;Department of Biochemistry and Molecular Biology, University of the Basque Country, Leioa, Spain. ^[2] Department of Biochemistry and Molecular Biology, University of the Basque Country, Leioa, Spain. ^[3] Center for Cooperative Research in Biomaterials (CIC biomaGUNE), Basque Research and Technology Alliance (BRTA), Donostia San Sebastián, Spain. ^[4] Lipid Unit, Hospital Universitario Miguel Servet, IIS Aragon, CIBERCV, Universidad de Zaragoza, Spain. ^[5] Department of Organic and Inorganic Chemistry, University of Basque Country UPV/EHU, Leioa, Spain. ^[6] Instituto Biofisika (UPV/EHU, CSIC), University of the Basque Country, Leioa, Spain.;IKERBASQUE, Basque Foundation for Science, Bilbao, Spain. ^[7]

关键词 ANN, artificial neural network AUROC, area under the receiver operating curve EGS, expert-guided selection ESEA, Excel Solver Evolutionary algorithm FH, familial hypercholesterolemia LDA, linear discriminant analysis LDL receptor LDL, low-density lipoprotein LDLr, low-density lipoprotein receptor LNN, linear neural networks ML, machine learning MLP, multilayer perceptron MLb-LDLr, machine-learning–based low-density lipoprotein receptor software RBF, radial basis function UTR, untranslated region familial hypercholesterolemia machine learning software pathogenicity prediction

DOI 10.1016/j.jacbts.2021.08.009

PMID 34869944

发布时间 2021-12-07

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JACC. Basic to translational science

2021年6卷11期

815-827页

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JACC. Basic to translational science

2021年6卷11期

815-827页

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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of <i>LDLr</i> Missense Variants.

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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of <i>LDLr</i> Missense Variants.

JACC. Basic to translational science

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JACC. Basic to translational science

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