Louka Konstantina, Papadakis Stamatios
Enhancing computational thinking in early childhood education through ScratchJr integration
Heliyon
increasing volume intricacy sequencing data along clinical diagnostic data like drug responses measurable residual disease creates challenges efficient clinical comprehension interpretation using paediatric bcell precursor acute lymphoblastic leukaemia bcpall use case present artificial intelligence aiassisted clinical framework clinall integrates genomic clinical data userfriendly interface support routine diagnostics reveal translational insights hematologic neoplasia performed targeted rna sequencing 1365 cases haematological neoplasms primarily paediatric bcell precursor acute lymphoblastic leukaemia bcpall aieopbfm study carried fluorescence situ hybridization fish karyotyping arraycgh part routine diagnostics analysis results assays well additional clinical information integrated interactive web interface using bokeh main graph based uniform manifold approximation projection umap analysis gene expression data backend clinall built shallow machine learning models deep neural network using scikitlearn pytorch respectively applying clinall 78 undetermined patients current diagnostic protocol stratified ambiguous cases investigated translational insights discovered including ikzf1plus status dependent subpopulations bcrabl1 positive patients subpopulation within etv6runx1 positive patients high relapse frequency best machine learning models lda pasnetlike neural network models achieve f1 scores 97 predicting patients subgroups aiassisted clinical framework integrates genomic clinical data take full advantage available data improve pointofcare decisionmaking reveal clinically relevant insights promptly lightweight easily transferable framework works whole transcriptome data well costeffective targeted rnaseq enabling efficient equitable delivery personalized medicine small clinics developing countries german ministry education research bmbf german research foundation dfg foundation polish science