Genetics

Associations between human oxytocin receptor gene promoter DNA methylation and brain structural connectome in panic disorder in Korea.

AIMS: Epigenetic regulation of the oxytocin receptor gene (OXTR), particularly DNA methylation (DNAm...

MicroRNAs as novel therapeutics against multidrug-resistant ESKAPE pathogens: mechanisms, challenges, and future directions.

BACKGROUND: Multidrug-resistant (MDR) ESKAPE pathogens, including Enterococcus faecium, S. aureus, K...

Architectural logic of the 3D genome: mechanisms of dysregulation and emerging cancer therapeutics.

The three-dimensional (3D) genome provides an essential layer of organization that shapes genome fun...

Ultrafast and reference-free sequence discovery in single-cell data.

Knowledge of RNA sequences, expression, splicing, isoforms, structure and modifications is central f...

Multimodal AI Methods for Predicting Pathologic Complete Response in Breast Cancer.

Neoadjuvant chemotherapy (NAC) can eliminate all invasive cancer in some breast cancer patients, ach...

De Novo Design of a Protein Binder to Probe Gas Channel and Enhance the Oxygen Tolerance of [NiFe]-Hydrogenase.

[NiFe]-Hydrogenases display remarkable catalytic efficiency for H2 production and oxidation but are ...

Programmable Domestication: CRISPR, Pan-Genomics and System Level Engineering for Next-Generation Crops.

Global agriculture is increasingly challenged by climate instability, genetic erosion, emerging path...

Systems pharmacology reveals type I interferon and myeloid-like B cell reprogramming as candidate druggable axes in antiphospholipid syndrome.

Antiphospholipid syndrome (APS) lacks disease-modifying targeted therapies, and its molecular hetero...

Identification of Aging and Mitochondria-Related Hub Genes in Dilated Cardiomyopathy.

Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and systolic dysfunction ...

Bioinformatics and Machine-Learning Identification of Pulmonary Hypertension Biomarkers and Candidate Therapeutic Compounds.

This study aimed to identify pulmonary hypertension (PH)-associated molecular biomarkers and candida...

Deep learning differentiates myeloproliferative neoplasms and predicts JAK2 and CALR mutations from bone marrow smears.

Accurate differentiation of BCR::ABL1-negative myeloproliferative neoplasms (MPNs) based on bone mar...

Epigenetic markers expand genetic risk estimation in acute myeloid leukemia.

Gene mutations and chromosome abnormalities are important components of prognostication in acute mye...

Mirror Worlds: The Shared Regulatory Architecture of Cell Fate in Development and Cancer.

Lineage plasticity has emerged as a central mechanism through which cancer cells adapt to therapeuti...

Predictive design of tissue-specific mammalian enhancers that function in the mouse embryo.

Enhancers control tissue-specific gene expression across animals1. Although deep learning2,3 has ena...

Saliva Liquid Biopsy for Detection of Oral and Systemic Diseases.

Saliva has emerged as a compelling liquid biopsy for the non-invasive diagnosis and monitoring of bo...

Pathogenic Genetic Variants, Comorbid Autism and Adaptive Developmental Quotient as Independent Predictors of Intellectual Disability in Children With Global Developmental Delay: An Interpretable Machine Learning Model With Calibrated Risk Estimation.

BACKGROUND: Global developmental delay (GDD) frequently precedes intellectual disability (ID), but n...

Limits of deep-learning-based RNA prediction methods.

In recent years, tremendous advances have been made in predicting protein structures and protein-pro...

Identification and Classification of Expressed Orphan Genes, Spurious Orphan Genes, and Conserved Genes in the Human Gut Microbiome.

Orphan genes - genes lacking detectable homologs outside a species - are widespread in microbial gen...

NICE: A Two-Step Non-Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment.

Non-invasive preimplantation genetic testing (niPGT) using cell-free DNA (cfDNA) extracted from spen...

Correction: Interpretable machine learning for cattle breed classification and SNP prioritization.

Multidimensional 5-hydroxymethylcytosine features in cell-free DNA enable the detection, staging and subtyping of pancreatic ductal adenocarcinoma.

Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignant cancer with limited biomarkers ...