Genetics

AI-ECG classification for Brugada syndrome: A study of machine learning techniques to optimise for limited datasets.

Deep neural networks can classify ECGs with high accuracy when training data is abundant. Rare condi...

Large-scale analysis of DNA quantification metrics and SNP sequencing performance in unidentified human remains.

Massively parallel sequencing (MPS)-based single nucleotide polymorphism (SNP) profiling is being in...

Integrative bioinformatics and machine learning combined with experimental validation in a doxorubicin-induced model identify BACH2, NXPH4, CD1E, and LIF as sodium overload-related molecular signatures in dilated cardiomyopathy.

INTRODUCTION: Dilated cardiomyopathy (DCM) is a leading cause of heart failure and remains a major c...

Transcriptome Profiling of Peripheral Blood for Inflammatory Subtype Classification and Diagnostic Model Construction in Asthma.

OBJECTIVE: This study aimed to identify inflammatory subtypes of asthma using peripheral blood trans...

Machine learning-based model for prediction of KCNJ5 mutation in unilateral primary aldosteronism based on [68Ga]Ga-Pentixafor PET/CT.

A machine learning framework reveals key drivers of cytokine responses in a healthy human cohort.

Population based studies are essential to evaluate the impact of the genetic and environmental deter...

Three-dimensional genome reorganization foreshadows zygotic genome activation in Drosophila.

How chromatin conformation relates to chromatin state remains a central challenge in genome regulati...

Toxicogenomic Characterization of Perfluorooctanoic Acid-Associated Bladder Carcinogenesis.

OBJECTIVE: This study aims to bridge toxicological target prediction and bladder cancer transcriptom...

NetG2P: Network-based genotype-to-phenotype transformation identifies key signaling crosstalk for prognosis in pan-cancer study.

BACKGROUND: Despite advances in whole-genome sequencing and identifying cancer-associated genetic al...

RNA Dynamics and Interactions Revealed Through Atomistic Simulations.

RNA function is deeply intertwined with its conformational dynamics. In this review, we survey recen...

Screening Biomarkers for Nerve Injury Using Weighted Gene Co‐Expression Network Analysis and Machine Learning.

BACKGROUND: Nerve injury triggers complex molecular responses involving immune activation and neuron...

Systematic evaluation of computational methods for cell segmentation.

Cell segmentation plays a crucial role in elucidating cell structure and function, understanding dis...

Identification of the immune-related diagnostic biomarkers between Graves' disease and thyroid carcinoma based on comprehensive bioinformatics analysis and machine learning.

Increasing evidence suggests that Graves' disease (GD) may increase the risk of thyroid cancer (THCA...

Familial colorectal cancer: risk factors, screening strategies and personalized medicine.

Colorectal cancer (CRC) remains a leading cause of cancer-related mortality worldwide, with approxim...

Breaking resistance in BRAF-mutant Melanoma: Novel strategies and biomarkers for optimizing targeted therapies.

In metastatic melanoma with a BRAFV600 mutation, inhibitors of BRAF and MEK have improved survival. ...

Subclassification of Small Cell Lung Cancer Based on Gene Expression Signatures and Machine Learning.

Small-cell lung cancer (SCLC) is frequently subdivided into four molecular subtypes according to the...

Microbiota-host interaction in colorectal cancer: emerging computational technology, multi-omics integration, and mechanisms.

Colorectal cancer (CRC) remains a major global health burden with the gut microbiome emerging as a c...

Integrative multi-omics refines the molecular subtypes of thyroid cancers and enhances cancer-progression prediction: a retrospective cohort study.

BACKGROUND: Current molecular classification model for thyroid cancer (TC), which relies on BRAF-RAS...

A novel transformer-based platform for the prediction and design of biosynthetic gene clusters for (un)natural products.

Biosynthetic gene clusters (BGCs), comprising sets of functionally related genes responsible for syn...

Large language model and Gd-EOB-DTPA-enhanced MRI-based risk stratification system for postoperative hepatocellular carcinoma: a multicenter study.

OBJECTIVE: To develop and validate a Fully Automated Stratification System (FASS) integrating serum ...

Influence of sex differences among endoscopists in gastric cancer and precancerous condition detection rate during EGD in the artificial intelligence era: a retrospective study.

AIMS: This study investigated whether endoscopist sex is associated with the detection of gastric pr...