Motivation: Phenomics is essential for understanding the mechanisms that regulate or influence growth, fitness, and development. Techniques have been developed to conduct high-throughput large-scale phenotyping on animals, plants and humans, aiming to bridge the gap between genomics, gene functions and traits. Although new developments in phenotyping techniques are exciting, we are limited by the tools to analyze fully the massive phenotype data, especially the dynamic relationships between phenotypes and environments.
Results: We present a new algorithm called PhenoCurve, a knowledge-based curve fitting algorithm, aiming to identify the complex relationships between phenotypes and environments, thus studying both values and trends of phenomics data. The results on both real and simulated data showed that PhenoCurve has the best performance among all the six tested methods. Its application to photosynthesis hysteresis pattern identification reveals new functions of core genes that control photosynthetic efficiency in response to varying environmental conditions, which are critical for understanding plant energy storage and improving crop productivity.
Availability And Implementation: Software is available at phenomics.uky.edu/PhenoCurve.
Contact: chen.jin@uky.edu or kramerd8@cns.msu.edu.
Supplementary Information: Supplementary data are available at Bioinformatics online.
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http://dx.doi.org/10.1093/bioinformatics/btw673 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China.
Glioma is characterized by high heterogeneity and poor prognosis. Attempts have been made to understand its diversity in both genetic expressions and radiomic characteristics, while few integrated the two omics in predicting survival of glioma. This study was intended to investigate the connection between glioma imaging and genome, and examine its predictive value in glioma mortality risk and tumor immune microenvironment (TIME).
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pharmacy, College of Pharmacy, Chungbuk National University, 194-21, Osongsaengmyeong-1 ro, Heungdeok-gu, Cheongju, 28160, Chungcheongbuk-do, Korea.
High-sensitivity C-reactive protein (hsCRP) is a representative biomarker of systemic inflammation and is associated with numerous chronic diseases. To explore the biological pathways and functions underlying chronic inflammation, we conducted a genome-wide association study (GWAS) and several post-GWAS analyses of the hsCRP levels. This study was performed on data from 71,019 Koreans and is one of the largest East Asian studies.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2025
Department of Obstetrics and Gynecology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Objective: The objective of this study was to identify a novel gene and its potential mechanisms associated with susceptibility to gestational diabetes mellitus (GDM) through an integrative approach.
Methods: We analyzed data from genome-wide association studies (GWAS) of GDM in the FinnGen R11 dataset (16,802 GDM cases and 237,816 controls) and Genotype Tissue Expression v8 expression quantitative trait locus data. We used summary-data-based Mendelian randomization to determine associations between transcript levels and phenotypes, transcriptome-wide association studies to provide insights into gene-trait associations, multi-marker analysis of genomic annotation to perform gene-based analysis, genome-wide complex trait analysis-multivariate set-based association test-combo to determine gene prioritization, and polygenic priority scores to prioritize the causal genes to screen candidate genes.
BMC Rheumatol
January 2025
State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Science, Fudan University, Shanghai, 200120, China.
Objective: Elevated red blood cell distribution width (RDW) is associated with increased risk of rheumatoid arthritis (RA), but the potential interactions of RDW with genetic risk of incident RA remain unclear. This study aimed to investigate the associations between RDW, genetics, and the risk of developing RA.
Methods: We analysed data from 145,025 healthy participants at baseline in the UK Biobank.
HGG Adv
December 2024
Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Clare Hall, University of Cambridge, Cambridge, England. Electronic address:
Single-cell transcriptome data can provide insights into how genetic variation influences biological processes involved in human biology and disease. However, the identification of gene-level associations in distinct cell types faces several challenges, including the limited reference resource from population scale studies, data sparsity in single-cell RNA sequencing, and the complex cell state pattern of expression within individual cell types. Here we develop genetic models of cell type specific and cell state adjusted gene expression in mid-brain neurons in the process of specializing from induced pluripotent stem cells.
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