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2701 results

Full text 2026

Identification and diagnostic potential of pyroptosis-related genes in endometriosis: A novel bioinformatics analysis and validation

Wang L, Teng P, Chen J, et al.

<h4>Background</h4>Endometriosis (EMs) is a chronic inflammatory disease characterized by ectopic endometrial growth. This study aimed to identify and analyze potential signatures of pyroptosis-related genes in EMs.<h4>Methods</h4>We conducted a comprehensive bioinformatics analysis using transcriptomic datasets from …

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Bioinformatics Transcriptomics
Full text 2026

A hybrid neighborhood enhanced contrastive learning and self-knowledge distillation method for scRNA-seq data clustering analysis

Qi L, Wang P, Liu H, et al.

<h4>Motivation</h4>Single-cell heterogeneity analysis faces significant challenges due to the high dimensionality, complexity, and noise inherent in scRNA-seq data, especially when aiming for precise cell type classification. Existing analytical methods often exhibit limited generalization ability and …

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Single-Cell Transcriptomics
Full text 2026

Integrated Transcriptomic and Single-Cell Analyses Link ATP7A, a Cuproptosis-Related Hub Gene, to ECM-Adhesion Signaling Dysfunction in UVB-Induced Skin Photodamage

Li S, Wan W, Meng T, et al.

<h4>Objective</h4>To investigate the link between UVB-induced skin photodamage and cuproptosis, and identify key regulatory genes.<h4>Methods</h4>Transcriptomic data from UVB-irradiated human skin (GSE41078) were obtained from GEO. Differentially expressed genes (DEGs) were identified, followed by GO and …

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Transcriptomics
Full text 2026

MultiOmicsXplorer, a tool to browse, access and analyse multi-omics data

Meo E, Lombardi V, Venafra V, et al.

BACKGROUND: Personalized and precision medicine aim to identify predictive biomarkers from patient-specific proteogenomic profiles and to uncover tailored therapeutic strategies by targeting deregulated proteins driving disease phenotypes. METHODS: To address these challenges, we developed MultiOmicsXplorer, …

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Transcriptomics
Full text 2026

ImmunoPepper: extracting personalized peptides from complex splicing graphs

Prélot L, Chen J, Hüser M, et al.

<h4>Motivation</h4>RNA sequencing enables the characterization of a cell's transcript isoforms in healthy and disease conditions. In the context of cancer, local transcript variability may translate to splicing-derived tumor-associated peptides recognized by the immune system. A …

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Transcriptomics
Full text 2026

Investigating the Pleiotropic Role of KIF21B in Schizophrenia and Multiple Sclerosis: A Bioinformatics Analysis

Korkmaz ED, Everest E.

<h4>Objective</h4>Genome-wide association studies have identified shared genetic risk loci between schizophrenia (SCZ) and multiple sclerosis (MS), suggesting overlapping biological mechanisms despite distinct clinical presentations. Here, we aimed to characterize the biological plausibility of <i>KIF21B</i> as …

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Bioinformatics Transcriptomics
Full text 2026

A two-phase clustering procedure based on allele specific expression

Pagliarini R, Nascimben F, Policriti A.

<h4>Background</h4>Allele Specific Expression analysis is an important tool for integrating genome and transcriptome data. It quantifies expression variation between the two haplotypes of a diploid individual distinguished by heterozygous sites, and is a powerful tool …

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Transcriptomics
Full text 2026

DeepCE: a deep learning framework for correlation-enhanced gene regulatory network inference in single-cell RNA sequencing data

Wu Q, Dai X, Lou S, et al.

<h4>Motivation</h4>Single-cell RNA sequencing has substantially advanced our understanding of gene expression dynamics and cellular heterogeneity. In recent years, deep learning (DL) has emerged as a promising approach to infer genetic regulation. However, these methods still …

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Bioinformatics Single-Cell Transcriptomics
Full text 2026

ORFannotate: reproducible coding sequence annotation of transcriptome assemblies

García-Ruiz S, Macpherson H, Caton L, et al.

<h4>Summary</h4>Accurate annotation of coding sequences and translational features within transcript models is essential for interpreting assembled transcriptomes and their functional potential. Existing open reading frame (ORF) prediction tools typically operate on transcript FASTA files and …

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Nanopore Sequencing Transcriptomics
Full text 2026

Nested co-expression network analysis identifies compact gene clusters in a black box

Dyugay IA, Poslavsky A, Lukyanov DK, et al.

<h4>Motivation</h4>Digital analysis of biological systems requires methods capable of identifying both broad and nested gene modules reflecting complex biological processes. Existing transcriptomic methods often miss compact gene sets corresponding to subprocesses in specialized cell types, …

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Transcriptomics
Full text 2026

ASTRO: Automated Spatial-Transcriptome whole RNA Output

Zhang D, Chu Z, Huo Y, et al.

<h4>Motivation</h4>Despite significant advances in spatial transcriptomics, the analysis of formalin-fixed paraffin-embedded (FFPE) tissues, which constitute most clinically available samples, remains challenging. Additionally, capturing both coding and non-coding RNAs in a spatial context poses significant challenges. …

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Transcriptomics