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Polymorphism, Single Nucleotide

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Endometrial tumorigenesis involves epigenetic plasticity demarcating non-coding somatic mutations and 3D-genome alterations.

Genome biology
BACKGROUND: The incidence and mortality of endometrial cancer (EC) is on the rise. Eighty-five percent of ECs depend on estrogen receptor alpha (ERα) for proliferation, but little is known about its transcriptional regulation in these tumors.

Exploring new drug treatment targets for immune related bone diseases using a multi omics joint analysis strategy.

Scientific reports
In the field of treatment and prevention of immune-related bone diseases, significant challenges persist, necessitating the urgent exploration of new and effective treatment methods. However, most existing Mendelian randomization (MR) studies are con...

Biological Prior Knowledge-Embedded Deep Neural Network for Plant Genomic Prediction.

Genes
Genomic prediction is a powerful approach that predicts phenotypic traits from genotypic information, enabling the acceleration of trait improvement in plant breeding. Traditional genomic prediction methods have primarily relied on linear mixed mode...

Integrating Artificial Intelligence and Bioinformatics Methods to Identify Disruptive STAT1 Variants Impacting Protein Stability and Function.

Genes
The Signal Transducer and Activator of Transcription 1 () gene is an essential component of the JAK-STAT signaling pathway. This pathway plays a pivotal role in the regulation of different cellular processes, including immune responses, cell growth,...

MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.

Briefings in bioinformatics
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of t...

Assessment for antibiotic resistance in : A practical and interpretable machine learning model based on genome-wide genetic variation.

Virulence
() antibiotic resistance poses a global health threat. Accurate identification of antibiotic resistant strains is essential for the control of infection. In the present study, our goal is to leverage the whole-genome data of to develop practical an...

Mitochondrial mt12361A>G increased risk of metabolic dysfunction-associated steatotic liver disease among non-diabetes.

World journal of gastroenterology
BACKGROUND: Insulin resistance, lipotoxicity, and mitochondrial dysfunction contribute to the pathogenesis of metabolic dysfunction-associated steatotic liver disease (MASLD). Mitochondrial dysfunction impairs oxidative phosphorylation and increases ...

Predictive Model of Objective Response to Nivolumab Monotherapy for Advanced Renal Cell Carcinoma by Machine Learning Using Genetic and Clinical Data: The SNiP-RCC Study.

JCO clinical cancer informatics
PURPOSE: Anti-PD-1 antibodies are widely used for cancer treatment, including in advanced renal cell carcinoma (RCC). However, the therapeutic response varies among patients. This study aimed to predict tumor response to nivolumab anti-PD-1 antibody ...

EBMGP: a deep learning model for genomic prediction based on Elastic Net feature selection and bidirectional encoder representations from transformer's embedding and multi-head attention pooling.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
Enhancing early selection through genomic estimated breeding values is pivotal for reducing generation intervals and accelerating breeding programs. Recently, deep learning (DL) approaches have gained prominence in genomic prediction (GP). Here, we i...

Comparison between logistic regression and machine learning algorithms on prediction of noise-induced hearing loss and investigation of SNP loci.

Scientific reports
To compare the comprehensive performance of conventional logistic regression (LR) and seven machine learning (ML) algorithms in Noise-Induced Hearing Loss (NIHL) prediction, and to investigate the single nucleotide polymorphism (SNP) loci significant...