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Varied cluster analysis were applied to facial surface measurements from 62 prepubertal boys with essential autism to determine whether facial morphology constitutes viable biomarker for delineation of discrete Autism Spectrum Disorders (ASD) subgroups. Earlier study indicated utility of facial morphology for autism subgrouping (Aldridge et al. in Mol Autism 2(1):15, ). Geodesic distances between standardized facial landmarks were measured from three-dimensional stereo-photogrammetric images. Subjects were evaluated for autism-related symptoms, neurologic, cognitive, familial, and phenotypic variants. The most compact cluster is clinically characterized by severe ASD, significant cognitive impairment and language regression. This verifies utility of facially-based ASD subtypes and validates Aldridge et al.'s severe ASD subgroup, notwithstanding different techniques. It suggests that language regression may define a unique ASD subgroup with potential etiologic differences. [ABSTRACT FROM AUTHOR]

Large degradations in document images impede their readability and deteriorate the performance of automated document processing systems. Document image quality (IQ) metrics have been defined through optical character recognition (OCR) accuracy. Such metrics, however, do not always correlate with human perception of IQ. When enhancing document images with the goal of improving readability, e.g., in historical documents where OCR performance is low and/or where it is necessary to preserve the original context, it is important to understand human perception of quality. The goal of this paper is to design a system that enables the learning and estimation of human perception of document IQ. Such a metric can be used to compare existing document enhancement methods and guide automated document enhancement. Moreover, the proposed methodology is designed as a general framework that can be applied in a wide range of applications. [ABSTRACT FROM PUBLISHER]

ZHENG, Traditional Chinese Medicine syndrome, is an integral and essential part of Traditional Chinese Medicine theory. It defines the theoretical abstraction of the symptom profiles of individual patients and thus, used as a guideline in disease classification in Chinese medicine. For example, patients suffering from gastritismay be classified as Cold or Hot ZHENG, whereas patients with different diseases may be classified under the same ZHENG. Tongue appearance is a valuable diagnostic tool for determining ZHENG in patients. In this paper, we explore new modalities for the clinical characterization of ZHENG using various supervised machine learning algorithms. We propose a novel-color-space-based feature set, which can be extracted from tongue images of clinical patients to build an automated ZHENG classification system. Given that Chinese medical practitioners usually observe the tongue color and coating to determine a ZHENG type and to diagnose different stomach disorders including gastritis, we propose using machine-learning techniques to establish the relationship between the tongue image features and ZHENG by learning through examples. The experimental results obtained over a set of 263 gastritis patients, most of whom suffering Cold Zheng or Hot ZHENG, and a control group of 48 healthy volunteers demonstrate an excellent performance of our proposed system. [ABSTRACT FROM AUTHOR]

Background: The additive model of inheritance assumes that heterozygotes (Aa) are exactly intermediate in respect to homozygotes (AA and aa). While this model is commonly used in single-locus genetic association studies, significant deviations from additivity are well-documented and contribute to phenotypic variance across many traits and systems. This assumption can introduce type I and type II errors by overestimating or underestimating the effects of variants that deviate from additivity. Alternative genotype encoding strategies have been explored to account for different inheritance patterns, but they often incur significant computational or methodological costs. To address these challenges, we introduce PAGER (Phenotype Adjusted Genotype Encoding and Ranking), an efficient pre-processing method that encodes each genetic variant based on normalized mean phenotypic differences between diallelic genotype classes (AA, Aa, and aa). This approach more accurately reflects each variant's true inheritance model, improving model precision while minimizing the costs associated with alternative encoding strategies. Results: Through extensive benchmarking on SNPs simulated with both binary and continuous phenotypes, we demonstrate that PAGER accurately represents various inheritance patterns (including additive, dominant, recessive, and heterosis), achieves levels of statistical power that meet or exceed other encoding strategies, and attains computation speeds up to 55 times faster than a similar method, EDGE. We also apply PAGER to publicly available real-world data and identify a novel, relevant putative QTL associated with body mass index in rats (Rattus norvegicus) that is not detected with the additive model. Conclusions: Overall, we show that PAGER is an efficient genotype encoding approach that can uncover sources of missing heritability and reveal novel insights in the study of complex traits while incurring minimal costs. [ABSTRACT FROM AUTHOR]

Biomedical datasets distill many mechanisms of human diseases, linking diseases to genes and phenotypes (signs and symptoms of disease), genetic mutations to altered protein structures, and altered proteins to changes in molecular functions and biological processes. It is desirable to gain new insights from these data, especially with regard to the uncovering of hierarchical structures relating disease variants. However, analysis to this end has proven difficult due to the complexity of the connections between multi-categorical symbolic data. This article proposes symbolic tree adaptive resonance theory (START), with additional supervised, dual-vigilance (DV-START), and distributed dual-vigilance (DDV-START) formulations, for the clustering of multi-categorical symbolic data from biomedical datasets by demonstrating its utility in clustering variants of Charcot–Marie–Tooth disease using genomic, phenotypic, and proteomic data. [ABSTRACT FROM AUTHOR]

Reliable identification of Inflammatory biomarkers from metagenomics data is a promising direction for developing non-invasive, cost-effective, and rapid clinical tests for early diagnosis of IBD. We present an integrative approach to Network-Based Biomarker Discovery (NBBD) which integrates network analyses methods for prioritizing potential biomarkers and machine learning techniques for assessing the discriminative power of the prioritized biomarkers. Using a large dataset of new-onset pediatric IBD metagenomics biopsy samples, we compare the performance of Random Forest (RF) classifiers trained on features selected using a representative set of traditional feature selection methods against NBBD framework, configured using five different tools for inferring networks from metagenomics data, and nine different methods for prioritizing biomarkers as well as a hybrid approach combining best traditional and NBBD based feature selection. We also examine how the performance of the predictive models for IBD diagnosis varies as a function of the size of the data used for biomarker identification. Our results show that (i) NBBD is competitive with some of the state-of-the-art feature selection methods including Random Forest Feature Importance (RFFI) scores; and (ii) NBBD is especially effective in reliably identifying IBD biomarkers when the number of data samples available for biomarker discovery is small. [ABSTRACT FROM AUTHOR]