New technologies allow for high-dimensional profiling of patients. For instance, genome-wide gene expression analysis in tumors or in blood is feasible with microarrays, if all transcripts are known, or even without this restriction using high-throughput RNA sequencing. Other technologies like NMR finger printing allow for high-dimensional profiling of metabolites in blood or urine. Such technologies for high-dimensional patient profiling represent novel possibilities for molecular diagnostics. In clinical profiling studies, researchers aim to predict disease type, survival, or treatment response for new patients using high-dimensional profiles. In this process, they encounter a series of obstacles and pitfalls. We review fundamental issues from machine learning and recommend a procedure for the computational aspects of a clinical profiling study.
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http://dx.doi.org/10.1007/978-1-4939-6613-4_12 | DOI Listing |
Diagnostics (Basel)
January 2025
Department of Computer Science and Engineering, Faculty of Engineering and Technology, Technology Campus (Peenya Campus), Ramaiah University of Applied Sciences, Bengaluru 560058, India.
This study presents a comparative analysis of the multistage diagnosis of Alzheimer's disease (AD), including mild cognitive impairment (MCI), utilizing two distinct types of biomarkers: blood gene expression and clinical biomarker samples. Both of these samples, obtained from participants in the Alzheimer's Disease Neuroimaging Initiative (ADNI), were independently analyzed utilizing machine learning (ML)-based multiclassifiers. This study applied novel machine learning-based data augmentation techniques to gene expression profile data that are high-dimensional, low-sample-size (HDLSS) and inherently highly imbalanced.
View Article and Find Full Text PDFStat Med
February 2025
Department of Mathematical Sciences, The University of Texas at Dallas, Richardson, Texas.
Advances in next-generation sequencing technology have enabled the high-throughput profiling of metagenomes and accelerated microbiome studies. Recently, there has been a rise in quantitative studies that aim to decipher the microbiome co-occurrence network and its underlying community structure based on metagenomic sequence data. Uncovering the complex microbiome community structure is essential to understanding the role of the microbiome in disease progression and susceptibility.
View Article and Find Full Text PDFBrief Bioinform
November 2024
School of Engineering, Westlake University, No. 600 Dunyu Road, 310030 Zhejiang, P.R. China.
Single-cell RNA sequencing (scRNA-seq) offers remarkable insights into cellular development and differentiation by capturing the gene expression profiles of individual cells. The role of dimensionality reduction and visualization in the interpretation of scRNA-seq data has gained widely acceptance. However, current methods face several challenges, including incomplete structure-preserving strategies and high distortion in embeddings, which fail to effectively model complex cell trajectories with multiple branches.
View Article and Find Full Text PDFMetab Brain Dis
January 2025
Chengdu University of Traditional Chinese Medicine, Chengdu, 611137, Sichuan, P.R. China.
The immune system has emerged as a major factor in the pathogenesis of Alzheimer's disease (AD). PANoptosis is a newly defined programmed cell death mechanism related to many inflammatory diseases. This study aimed to identify the differentially expressed (DE) PANoptosis-related genes with characteristics of immune dysregulation (PRGIDs) in AD using bioinformatics analysis of bulk RNA-seq and single-nuclei RNA sequencing (snRNA-seq) data.
View Article and Find Full Text PDFSci Rep
January 2025
NASA Ames Research Center, Moffett Field, Mountain View, USA.
Spaceflight has several detrimental effects on human and rodent health. For example, liver dysfunction is a common phenotype observed in space-flown rodents, and this dysfunction is partially reflected in transcriptomic changes. Studies linking transcriptomics with liver dysfunction rely on tools which exploit correlation, but these tools make no attempt to disambiguate true correlations from spurious ones.
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