Genetics

Decoding cancer with artificial intelligence: Transforming research, diagnosis, and therapy with future insights.

Cancer remains one of the leading global health burdens, with increasing complexity in genomic, imaging, and clinical datasets presenting significant challenges for effective management. Artificial intelligence (AI) has emerged as a powerful tool to address these challenges by enabling pattern recognition, knowledge integration, and data-driven decision-making. This review highlights recent advanc...

The human oral and airway viral genome catalog from metagenomes enables virome characterization informing respiratory health.

BACKGROUND: Viral communities of the upper aerodigestive tract represent an important component of the human microbial ecosystem but remain poorly characterized due to the limited availability of habitat-specific reference resources. METHODS: We integrated 19,997 public and 2,673 newly sequenced oral and airway metagenomes to establish the Oral and Airway Viral Genome Catalogue (OAVGC). Viral geno...

MicroNucML enables machine learning-based micronuclei segmentation and micronuclei-nuclei association.

Micronuclei (MN) are structures containing small DNA fragments that arise from mitotic errors or failed DNA repair and serve as markers of genome inst...

Development and validation of a machine learning model based on routine laboratory tests for predicting FLT3-ITD mutations in acute myeloid leukaemia.

Feline McDonough sarcoma (FMS)-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD) mutations are clinically important in acute myeloid leuka...

3D epigenome of glial cell types in developing human cortex.

The human cortex is complex and heterogeneous, undergoing extensive expansion during development1,2. Our prior study of neurogenesis, including radial...

Creating bottom-up RNA transfer vehicles from synthetic protein assemblies.

Evolution guides biological systems to populate ecological niches, with viruses among the most successful examples of this principle. Viruses evolved ...

A Critical Synthesis of Machine Learning in Autism Spectrum Disorder Genomic Research: From Transcriptomics to Microbiome.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent impairments in social communication, restricted i...

Integrated multi-omics analyses identify an RAS-SLC11A2-associated molecular framework linking iron metabolism with PCOS-related cardiometabolic risk.

INTRODUCTION: PCOS is a common endocrine disorder with elevated cardiometabolic risk, yet the role of the renin-angiotensin system (RAS)-iron metaboli...

Gene-level complexity explains genome-wide variation in the distribution of fitness effects.

The distribution of fitness effects (DFE)-describing how harmful, neutral, or beneficial new mutations are-is central to understanding how populations...

DNAmBERT: a transformer-based model for non-invasive cancer diagnosis using DNA sequence and methylation data.

DNA methylation alterations are early and stable hallmarks of cancer and represent promising biomarkers for non-invasive detection using circulating c...

A Token-Pruning Framework Enables Efficient Representation of the Human Genome for RNA Modification Analysis.

MOTIVATION: Modelling long genomic sequences remains challenging due to extreme sequence length, high redundancy, and the need for biological interpre...

Targeting GLUTs in Cancer: Mechanisms, Combination Strategies, and Translational Challenges.

Cancer cells exhibit metabolic reprogramming, most notably the Warburg effect, which underscores their heightened dependency on glucose uptake facilit...

Unraveling the polymorphism and optoelectronic properties of coumarin via high-throughput computational screening.

CONTEXT: Coumarin and its derivatives are privileged scaffolds in medicinal chemistry, yet their polymorphism poses significant challenges in pharmace...

PGS-GS: a framework integrating polygenic scores and genomic selection in animal breeding.

Genomic prediction has become a central paradigm in biology, enabling quantitative inference of genetic contributions to complex traits across humans,...

Integrating Target Prediction and Transcriptomic Analysis Identifies the AKR1C2-KRT8 Axis in Rotenone-Induced Dopaminergic Neuron Injury.

Parkinson's disease (PD) is a complex neurodegenerative disorder in which environmental toxins play a critical etiological role. Rotenone, a classical...

Lipoprotein(a) and the C-reactive protein-triglyceride-glucose index in relation to coronary lesion burden in patients with acute coronary syndrome.

BACKGROUND: Lipoprotein(a) [Lp(a)] reflects inherited atherothrombotic risk, whereas the C-reactive protein-triglyceride-glucose index (CTI) integrate...

Improving RNA Secondary Structure Prediction Through Expanded Training Data.

In recent years, deep-learning has revolutionized protein structure prediction, achieving remarkable speed and accuracy. RNA structure prediction, how...

Improving crowdsourcing for AI through cognitive-inspired data engineering.

Crowdsourcing offers a fast and cost-efficient approach to obtaining human-labeled datasets. However, crowdsourced datasets and the models trained on ...

Antimicrobial resistance analysis of Klebsiella pneumoniae bloodstream infections based on a random forest algorithm: a longitudinal study based on data from tertiary hospitals in China from 2012 to 2023.

BACKGROUND: Bloodstream infections (BSIs) caused by Klebsiella pneumoniae pose a significant global health burden, complicated by rising antimicrobial...

Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network Development.

Astrocytes play a pivotal role in neuronal network development. Despite the well-known role of astrocytes in the pathophysiology of neurologic disorde...