Discovering gene-phenotype associations is significant to understand the disease mechanisms. Nonnegative matrix factorization (NMF) has been widely used in computational biology for its good performance and interpretability. In this paper, we proposed a novel metrical consistency NMF (MCNMF) method for candidate gene prioritization. The MCNMF method assume that phenotype similarities, calculated from various independent ways, should be consistent in case that the associations between genes and phenotypes are completely known. Experiment results show that our method can recover the gene-phenotype associations effectively and outperform the comparative methods.
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http://dx.doi.org/10.1007/s12539-017-0224-9 | DOI Listing |
Rev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFToxicol Sci
January 2025
School of Mathematical and Natural Sciences, Arizona State University, Phoenix and Glendale, AZ.
Organophosphate and pyrethroid pesticides are common contaminants in cannabis. Due to the status of cannabis as an illicit Schedule I substance at the federal level, there are no unified national guidelines in the U.S.
View Article and Find Full Text PDFBMC Genomics
January 2025
College of Software, Nankai University, TianJin, China.
Background: Mining functional gene modules from genomic data is an important step to detect gene members of pathways or other relations such as protein-protein interactions. This work explores the plausibility of detecting functional gene modules by factorizing gene-phenotype association matrix from the phenotype ontology data rather than the conventionally used gene expression data. Recently, the hierarchical structure of phenotype ontologies has not been sufficiently utilized in gene clustering while functionally related genes are consistently associated with phenotypes on the same path in phenotype ontologies.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Health Promotion, Maternal and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro" (PROMISE), University of Palermo, Via del Vespro 129, Palermo, 90127, Italy.
Background And Aims: Stroke is a leading cause of mortality and morbidity in Bangladesh. It is estimated that genetic determinants account for around 40%-60% of its etiology, similar to environmental factors. This study aimed to provide a better understanding of the genetic, environmental, and clinical risk factors in stroke patients from Bangladesh.
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