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3689 results

Full text 2026

UPDhmm: detecting uniparental disomy from NGS trio data

Sevilla-Porras M, Ruiz-Arenas C, Pérez-Jurado LA.

<h4>Summary</h4>Uniparental disomies (UPDs) are copy-neutral chromosomal alterations that occur when both copies of a chromosome pair (entire or segmental) come from one parent. UPDs, including isodisomies (identical parental chromosome) and heterodisomies (two different homologs from …

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Bioinformatics
Full text 2026

Teaching artificial intelligence through drug-drug interaction clustering analysis: Integrating project-based learning and large language models

Lv J, Liu G, Zhou C.

In recent years, artificial intelligence (AI) has increasingly influenced daily life and scientific research. Traditionally, AI-related courses have targeted computer science majors, while systematic instructional opportunities for early-stage undergraduates from non-computing backgrounds remain limited. To …

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Bioinformatics
Full text 2026

NAViFluX: a visualization‑centric platform for interactive analysis, refinement and design of genome‑scale metabolic networks

Krishnamurthy MB, Harish PS, Subramanian A.

<h4>Motivation</h4>Genome-scale metabolic network (GSMN) models enable flux-based metabolite fate discovery, metabolic engineering, drug target identification, and multi-omics integration. However, programming requirements, architectural complexity, and limited visualization support impede its adoption by the broader scientific community. …

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Bioinformatics
Full text 2026

InSituPy: a framework for histology-guided, multi-sample analysis of single-cell spatial omics data

Wirth J, Chernysheva A, Lemke B, et al.

<h4>Motivation</h4>Spatial omics data provides unprecedented insights into disease biology, yet its complexity introduces significant challenges in data analysis. Comprehensive analysis requires frameworks that integrate diverse modalities and enable joint processing of multiple datasets and corresponding …

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Bioinformatics Single-Cell
Full text 2026

Identifying and validating ITGB2 and HNRNPAB as diagnostic biomarkers in chronic obstructive pulmonary disease using bioinformatics and Integrated Machine Learning Methods

Zhang F, Li H, Wu F, et al.

<h4>Background and aim</h4>COPD is a common respiratory disease characterized by progressive airflow restriction that severely affects patients' quality of life and leads to significant mortality rates worldwide. This study aims to strengthen the early diagnosis …

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Bioinformatics
Full text 2026

IQ-TREE 3: phylogenomic inference software using complex evolutionary models

Wong TKF, Ly-Trong N, Ren H, et al.

IQ-TREE (https://iqtree.github.io/) is a widely used open-source software tool for efficiently inferring phylogenetic trees under maximum likelihood. Here, we present IQ-TREE version 3, the third major release of the software. IQ-TREE 3 significantly extends version …

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Bioinformatics
Full text 2026

Evaluation of epistasis detection methods for quantitative phenotypes

Listopad S, Renjith G, Peng Q.

<h4>Motivation</h4>Epistasis, or genetic interaction, plays a crucial role in shaping complex traits and has been increasingly recognized for its widespread influence in genetic architectures. While epistasis detection has been extensively evaluated in case-control studies, its …

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Bioinformatics