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Article
Open AccessLoss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing
Protein arginine methyltransferase 9 (PRMT9) is a recently identified member of the PRMT family, yet its biological function remains largely unknown. Here, by characterizing an intellectual disability associat...
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Article
wMKL: multi-omics data integration enables novel cancer subtype identification via weight-boosted multi-kernel learning
Cancer is a heterogeneous disease driven by complex molecular alterations. Cancer subtypes determined from multi-omics data can provide novel insight into personalised precision treatment. It is recognised tha...
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Article
Speed Adaptive Graph Convolutional Network for Wheelset-Bearing System Fault Diagnosis Under Time-Varying Rotation Speed Conditions
The wheelset-bearing system is one of the key parts of the high-speed train. Fault diagnosis is the guarantee of its safe operation. But its vibration signal contains a lot of noise and is not stable. Existing...
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Article
Disrupted Maturation of Prefrontal Layer 5 Neuronal Circuits in an Alzheimer’s Mouse Model of Amyloid Deposition
Mutations in genes encoding amyloid precursor protein (APP) and presenilins (PSs) cause familial forms of Alzheimer’s disease (AD), a neurodegenerative disorder strongly associated with aging. It is currently ...
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Article
Open AccessEarly impairment of cortical circuit plasticity and connectivity in the 5XFAD Alzheimer’s disease mouse model
Genetic risk factors for neurodegenerative disorders, such as Alzheimer’s disease (AD), are expressed throughout the life span. How these risk factors affect early brain development and function remain largely...
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Article
Time-delimited signaling of MET receptor tyrosine kinase regulates cortical circuit development and critical period plasticity
Normal development of cortical circuits, including experience-dependent cortical maturation and plasticity, requires precise temporal regulation of gene expression and molecular signaling. Such regulation, and...
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Article
Open AccessComparison of methods for the detection of outliers and associated biomarkers in mislabeled omics data
Previous studies have reported that labeling errors are not uncommon in omics data. Potential outliers may severely undermine the correct classification of patients and the identification of reliable biomarker...
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Article
Open AccessLongitudinal data analysis for rare variants detection with penalized quadratic inference function
Longitudinal genetic data provide more information regarding genetic effects over time compared with cross-sectional data. Coupled with next-generation sequencing technologies, it becomes reality to identify i...
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Article
Open AccessGenome-wide random regression analysis for parent-of-origin effects of body composition allometries in mouse
Genomic imprinting underlying growth and development traits has been recognized, with a focus on the form of absolute or pure growth. However, little is known about the effect of genomic imprinting on relative...
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Article
Open AccessExtracting DNA words based on the sequence features: non-uniform distribution and integrity
DNA sequence can be viewed as an unknown language with words as its functional units. Given that most sequence alignment algorithms such as the motif discovery algorithms depend on the quality of background in...
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Article
Open AccessScreening high-risk clusters for develo** birth defects in mothers in Shanxi Province, China: application of latent class cluster analysis
Few studies on cluster-based synthetic effects of multiple risk factors for birth defects have been reported. The present study aimed to identify maternal exposure clusters, explore the association between clu...
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Article
Open AccessA new set-valued system identification approach to identifying rare genetic variants for ordered categorical phenotype
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Article
Open AccessA powerful statistical method identifies novel loci associated with diastolic blood pressure triggered by nonlinear gene-environment interaction
The genetic basis of blood pressure often involves multiple genetic factors and their interactions with environmental factors. Gene-environment interaction is assumed to play an important role in determining i...
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Article
Open AccessEntropy-based selection for maternal-fetal genotype incompatibility with application to preterm prelabor rupture of membranes
Maternal-fetal genotype incompatibility (MFGI) is increasingly reported to influence human diseases, especially pregnancy-related complications. In practice, it is challenging to identify the ideal incompatibi...
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Article
A novel method for identifying nonlinear gene–environment interactions in case–control association studies
The genetic influences on complex disease traits generally depend on the joint effects of multiple genetic variants, environmental factors, as well as their interplays. Gene × environment (G × E) interactions ...
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Article
Angiotensinogen Promoter Polymorphisms Predict Low Diffusing Capacity in U.S. and Spanish IPF Cohorts
Single nucleotide polymorphisms (SNPs) in angiotensinogen (AGT) at positions −20 and −6 are associated with increased severity and progression of various fibrotic diseases. Our earlier work demonstrated that the ...
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Article
An alternative route to cyclic terpenes by reductive cyclization in iridoid biosynthesis
Iridoids are a large family of bicyclic natural products that possess anticancer, anti-inflammatory, antifungal and antibacterial activities; here the essential cyclization step in their biosynthesis is identi...
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Article
Open AccessMap** Haplotype-haplotype Interactions with Adaptive LASSO
The genetic etiology of complex diseases in human has been commonly viewed as a complex process involving both genetic and environmental factors functioning in a complicated manner. Quite often the interaction...
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Protocol
Designs for Linkage Analysis and Association Studies of Complex Diseases
Genetic linkage analysis has been a traditional means for identifying regions of the genome with large genetic effects that contribute to a disease. Following linkage analysis, association studies are widely p...
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Article
Open AccessThe effect of multiple genetic variants in predicting the risk of type 2 diabetes
While recently performed genome-wide association studies have advanced the identification of genetic variants predisposing to type 2 diabetes (T2D), the potential application of these novel findings for diseas...
