Genetics

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

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Showing 8941-8960 of 14,220 articles

scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework.

Transcriptome-wide association studies (TWASs) help identify disease-causing genes but often fail to pinpoint disease mechanisms at the cellular level because of the limited sample sizes and sparsity of cell-type-specific expression data. Here, we propose scPrediXcan, which integrates state-of-the-art deep learning approaches that predict epigenetic features from DNA sequences with the canonical T...

May 14 2025 40373737

Development of a machine learning-based predictive risk model combining fatty acid metabolism and ferroptosis for immunotherapy response and prognosis in prostate cancer.

Prostate cancer (PCa) remains a leading cause of cancer-related mortality, necessitating robust prognostic models and personalized therapeutic strategies. This study integrated bulk RNA sequencing, single-cell RNA sequencing (scRNA-seq), and spatial transcriptomics to construct a prognostic model based on genes shared between ferroptosis and fatty acid metabolism (FAM). Using the TCGA-PRAD dataset...

May 13 2025 40355680
Development of an automated artificial intelligence-based tool for reticulin fibrosis assessment in bone marrow biopsies.

Bone marrow fibrosis plays a critical role in the diagnosis, prognosis, and management of haematological disorders, particularly myeloproliferative ne...

May 13 2025 40358741
Redefining Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer in the Era of Novel Antibody-Drug Conjugates.

The advent of next-generation antibody-drug conjugates (ADCs), particularly trastuzumab deruxtecan (T-DXd), has transformed our understanding of human...

May 13 2025 40359470
Targeting high-risk multiple myeloma genotypes with optimized anti-CD70 CAR-T cells.

Despite the success of BCMA-targeting CAR-Ts in multiple myeloma, patients with high-risk cytogenetic features still relapse most quickly and are in u...

May 13 2025 40359480
Predicting gene expression from DNA sequence using deep learning models.

Transcription of genes is regulated by DNA elements such as promoters and enhancers, the activity of which are in turn controlled by many transcriptio...

May 13 2025 40360798
Sex differences in bladder cancer: understanding biological and clinical implications.

Bladder cancer (BC) remains a significant global health concern, with substantial sex and racial disparities in incidence, progression, and outcomes. ...

May 13 2025 40361239
Insights into KMT2A rearrangements in acute myeloid leukemia: from molecular characteristics to targeted therapies.

Acute myeloid leukemia (AML) with KMT2A rearrangements (KMT2A-r) represents a highly aggressive and prognostically unfavorable subtype of leukemia, of...

May 13 2025 40361241
Transcriptomic Profiling of Hypoxia-Adaptive Responses in Tibetan Goat Fibroblasts.

The Tibetan goat () exhibits remarkable adaptations to high-altitude hypoxia, yet the molecular mechanisms remain unclear. This study integrates RNA-s...

May 13 2025 40427283
Past, Present and Future Perspectives of Forensic Genetics.

Forensic genetics has experienced remarkable advancements over the past decades, evolving from the analysis of a limited number of DNA segments to com...

May 13 2025 40427606
Elucidating the Prognostic and Therapeutic Implications of Insulin Resistance Genes in Breast Cancer: A Machine Learning-Powered Analysis.

Breast cancer (BC) is among the most prevalent malignancies and remains the leading cause of cancer-related mortality in women worldwide. While prior ...

May 13 2025 40427728
Explainable Machine Learning Identifies Factors for Dosage Compensation in Aneuploid Human Cancer Cells.

Aneuploidy, a hallmark of cancer, leads to widespread changes in chromosome copy number, altering the abundance of hundreds or thousands of proteins. ...

May 13 2025 40463217
Revolutionizing sleep disorder diagnosis: A Multi-Task learning approach optimized with genetic and Q-Learning techniques.

Adequate sleep is crucial for maintaining a healthy lifestyle, and its deficiency can lead to various sleep-related disorders. Identifying these disor...

May 13 2025 40360656
Identifying Lactylation-related biomarkers and therapeutic drugs in ulcerative colitis: insights from machine learning and molecular docking.

BACKGROUND: Ulcerative colitis (UC), a chronic relapsing-remitting inflammatory bowel disease. Recent studies have shown that lactylation modification...

May 13 2025 40361222
Modeling Enzyme Reaction and Mutation by Direct Machine Learning/Molecular Mechanics Simulations.

Accurately modeling enzyme reactions through direct machine learning/molecular mechanics simulations remains challenging in describing the electrostat...

May 13 2025 40273117
[Chest radiological lesions in COVID-19 : from classical imaging to artificial intelligence].

In the course of the pandemic induced by the appearance of a new coronavirus (SARS-CoV-2; COVID-19) causing acute respiratory distress syndrome (ARDS)...

May 13 2025 33211427
NMP-PaK: Near-Memory Processing Acceleration of Scalable De Novo Genome Assembly

De novo assembly enables investigations of unknown genomes, paving the way for personalized medicine and disease management. However, it faces immen...

Bridging Large Language Models and Single-Cell Transcriptomics in Dissecting Selective Motor Neuron Vulnerability

Understanding cell identity and function through single-cell level sequencing data remains a key challenge in computational biology. We present a no...

CVTree for 16S rRNA: Constructing Taxonomy-Compatible All-Species Living Tree Effectively and Efficiently

The Composition Vector Tree (CVTree) method, developed under the leadership of Professor Hao Bailin, is an alignment-free algorithm for constructing...

Securing Genomic Data Against Inference Attacks in Federated Learning Environments

Federated Learning (FL) offers a promising framework for collaboratively training machine learning models across decentralized genomic datasets with...

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