Genetics

Latest AI and machine learning research in genetics for healthcare professionals.

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Unsupervised Deep Learning for Blood-Brain Barrier Leakage Detection in Diffuse Glioma Using Dynamic Contrast-enhanced MRI.

Purpose To develop an unsupervised deep learning framework for generalizable blood-brain barrier leakage detection using dynamic contrast-enhanced MRI, without requiring pharmacokinetic models and arterial input function estimation. Materials and Methods This retrospective study included data from patients who underwent dynamic contrast-enhanced MRI between April 2010 and December 2020. An autoenc...

May 1 2025 40172325

Identifying the DNA methylation preference of transcription factors using ProtBERT and SVM.

Transcription factors (TFs) can affect gene expression by binding to certain specific DNA sequences. This binding process of TFs may be modulated by DNA methylation. A subset of TFs that serve as methylation readers preferentially binds to certain methylated DNA and is defined as TFPM. The identification of TFPMs enhances our understanding of DNA methylation's role in gene regulation. However, the...

May 1 2025 40359430
Decoupled GNNs based on multi-view contrastive learning for scRNA-seq data clustering.

Clustering is pivotal in deciphering cellular heterogeneity in single-cell RNA sequencing (scRNA-seq) data. However, it suffers from several challenge...

May 1 2025 40366859
MMsurv: a multimodal multi-instance multi-cancer survival prediction model integrating pathological images, clinical information, and sequencing data.

Accurate prediction of patient survival rates in cancer treatment is essential for effective therapeutic planning. Unfortunately, current models often...

May 1 2025 40366860
GAEDGRN: reconstruction of gene regulatory networks based on gravity-inspired graph autoencoders.

Reconstructing high-resolution gene regulatory networks (GRNs) based on single-cell RNA sequencing data provides an opportunity to gain insight into d...

May 1 2025 40415678
Machine learning-augmented m6A-Seq analysis without a reference genome.

Methylated RNA m6A immunoprecipitation sequencing (m6A-Seq) is a powerful technique for investigating transcriptome-wide m6A modification. However, mo...

May 1 2025 40415679
Rhythm profiling using COFE reveals multi-omic circadian rhythms in human cancers in vivo.

The study of ubiquitous circadian rhythms in human physiology requires regular measurements across time. Repeated sampling of the different internal t...

May 1 2025 40424435
scaLR: a low-resource deep neural network-based platform for single cell analysis and biomarker discovery.

Single-cell ribonucleic acid (RNA) sequencing (scRNA-seq) produces vast amounts of individual cell profiling data. Its analysis presents a significant...

May 1 2025 40439670
PLM-DBPs: enhancing plant DNA-binding protein prediction by integrating sequence-based and structure-aware protein language models.

DNA-binding proteins (DBPs) play a crucial role in gene regulation, development, and environmental responses across plants, animals, and microorganism...

May 1 2025 40439671
Deep learning reveals determinants of transcriptional infidelity at nucleotide resolution in the allopolyploid line by goldfish and common carp hybrids.

During DNA transcription, the central dogma states that DNA generates corresponding RNA sequences based on the principle of complementary base pairing...

May 1 2025 40471993
Open-Weight Language Models and Retrieval-Augmented Generation for Automated Structured Data Extraction from Diagnostic Reports: Assessment of Approaches and Parameters.

Purpose To develop and evaluate an automated system for extracting structured clinical information from unstructured radiology and pathology reports u...

May 1 2025 40072216
PackPPI: An integrated framework for protein-protein complex side-chain packing and ΔΔG prediction based on diffusion model.

Deep learning methods have played an increasingly pivotal role in advancing side-chain packing and mutation effect prediction (ΔΔG) for protein comple...

May 1 2025 40260988
DeepRNA-Twist: language-model-guided RNA torsion angle prediction with attention-inception network.

RNA torsion and pseudo-torsion angles are critical in determining the three-dimensional conformation of RNA molecules, which in turn governs their bio...

May 1 2025 40315431
Deep scSTAR: leveraging deep learning for the extraction and enhancement of phenotype-associated features from single-cell RNA sequencing and spatial transcriptomics data.

Single-cell sequencing has advanced our understanding of cellular heterogeneity and disease pathology, offering insights into cellular behavior and im...

May 1 2025 40315434
Artificial Intelligence Assessment of Chest Radiographs for COVID-19.

BACKGROUND: The sensitivity of reverse-transcription polymerase chain reaction (RT-PCR) is limited for diagnosis of severe acute respiratory syndrome ...

May 1 2025 39710565
Optimizing Treatment: The Role of Pharmacology, Genomics, and AI in Improving Patient Outcomes.

Recent advances in pharmacology are revolutionizing drug discovery and treatment strategies through personalized medicine, pharmacogenomics, and artif...

May 1 2025 40285487
GPA-RAM: Grasp-Pretraining Augmented Robotic Attention Mamba for Spatial Task Learning

Most existing robot manipulation methods prioritize task learning by enhancing perception through complex deep network architectures. However, they ...

On learning functions over biological sequence space: relating Gaussian process priors, regularization, and gauge fixing

Mappings from biological sequences (DNA, RNA, protein) to quantitative measures of sequence functionality play an important role in contemporary bio...

Representation Learning for Distributional Perturbation Extrapolation

We consider the problem of modelling the effects of unseen perturbations such as gene knockdowns or drug combinations on low-level measurements such...

3plex Web: An Interactive Platform for RNA:DNA Triplex Prediction and Analysis

Summary: Long non-coding RNAs (lncRNAs) exert their functions by cooperating with other molecules including proteins and DNA. Triplexes, formed thro...

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