Genetics

Genomic Perplexity and the Evolution of Context-Dependent Function.

The fundamental principle that selection acts on a gene's function often assumes implicitly that thi...

PON-Del predictor for sequence retaining protein deletions.

Protein deletions are frequent among both disease-causing and tolerated variants. Several mechanisms...

Artificial Intelligence in Human Genetics.

Artificial intelligence (AI) technologies have recently undergone transformative growth in capabilit...

INHBA: a mitochondrial-related pan-cell death gene associated with the prognosis and immunity of OSCC.

Oral squamous cell carcinoma (OSCC) is a malignant tumor characterized by both clinical and molecula...

Integrating Genetic and Biotechnological Approaches to Enhance High-CBD Cannabis sativa L. Cultivation for Medicinal Purposes.

The increasing demand for cannabidiol (CBD) and the relaxation of legal restrictions have driven the...

Pervasive transcription in the human genome exceeds background noise.

Large genomes such as the human genome are pervasively transcribed yet encode relatively few unambig...

Ultrasound-Responsive Serotonylation and Hallmark Pathway Gene Signatures Reveal Tumor Microenvironment Vulnerabilities and Prognostic Subtypes in Colorectal Cancer.

BACKGROUND: Focused ultrasound, low-intensity focused ultrasound, and microbubble-enhanced sonoporat...

A machine learning model integrating circulating Temra cell transcriptional profiles to predict immunotherapy efficacy.

BACKGROUND: While immunotherapy has transformed treatment paradigms for cancer, durable response rat...

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...

Inferring gene regulatory networks via adversarially regularized directed graph autoencoder.

Revealing complete gene regulatory networks (GRNs) is important for a deeper understanding of biolog...

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...

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...