Genetics

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

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MorphoITH: A Framework for Deconvolving Intra-Tumor Heterogeneity Using Tissue Morphology

The ability of tumors to evolve and adapt by developing subclones in different genetic and epigenetic states is a major challenge in oncology. Traditional tools like multi-regional sequencing used to study tumor evolution and the resultant intra-tumor heterogeneity (ITH) are often impractical because of their resource-intensiveness and limited scalability. Here, we present MorphoITH, a novel fra...

Predicting Fitness-Related Traits Using Gene Expression and Machine Learning.

Evolution by natural selection occurs at its most basic through the change in frequencies of alleles; connecting those genomic targets to phenotypic selection is an important goal for evolutionary biology in the genomics era. The relative abundance of gene products expressed in a tissue can be considered a phenotype intermediate to the genes and genomic regulatory elements themselves and more trad...

Feb 3 2025 39983007
scGSDR: Harnessing Gene Semantics for Single-Cell Pharmacological Profiling

The rise of single-cell sequencing technologies has revolutionized the exploration of drug resistance, revealing the crucial role of cellular hetero...

Deep learning-based classifier for carcinoma of unknown primary using methylation quantitative trait loci.

Cancer of unknown primary (CUP) constitutes between 2% and 5% of human malignancies and is among the most common causes of cancer death in the United ...

Feb 1 2025 39607989
AggNet: Advancing protein aggregation analysis through deep learning and protein language model.

Protein aggregation is critical to various biological and pathological processes. Besides, it is also an important property in biotherapeutic developm...

Feb 1 2025 39840791
Constructing a Prognostic Model for Subtypes of Colorectal Cancer Based on Machine Learning and Immune Infiltration-Related Genes.

This study constructed a prognostic model combining machine learning-based immune infiltration-related genes in each CRC subtype. We used publicly acc...

Feb 1 2025 40008534
BSODiag: A Global Diagnosis Framework for Batch Servers Outage in Large-scale Cloud Infrastructure Systems

Cloud infrastructure is the collective term for all physical devices within cloud systems. Failures within the cloud infrastructure system can sever...

No Foundations without Foundations -- Why semi-mechanistic models are essential for regulatory biology

Despite substantial efforts, deep learning has not yet delivered a transformative impact on elucidating regulatory biology, particularly in the real...

A network-driven framework for enhancing gene-disease association studies in coronary artery disease

Over the last decade, genome-wide association studies (GWAS) have successfully identified numerous genetic variants associated with complex diseases...

Context Matters: Query-aware Dynamic Long Sequence Modeling of Gigapixel Images

Whole slide image (WSI) analysis presents significant computational challenges due to the massive number of patches in gigapixel images. While trans...

Blocked Bloom Filters with Choices

Probabilistic filters are approximate set membership data structures that represent a set of keys in small space, and answer set membership queries ...

Identification of DNA damage repair-related genes in sepsis using bioinformatics and machine learning: An observational study.

Sepsis is a life-threatening disease with a high mortality rate, for which the pathogenetic mechanism still unclear. DNA damage repair (DDR) is essent...

Jan 31 2025 39889168
Glioma Multimodal MRI Analysis System for Tumor Layered Diagnosis via Multi-task Semi-supervised Learning

Gliomas are the most common primary tumors of the central nervous system. Multimodal MRI is widely used for the preliminary screening of gliomas and...

Algorithmic Segmentation and Behavioral Profiling for Ransomware Detection Using Temporal-Correlation Graphs

The rapid evolution of cyber threats has outpaced traditional detection methodologies, necessitating innovative approaches capable of addressing the...

A two-stage dual-task learning strategy for early prediction of pathological complete response to neoadjuvant chemotherapy for breast cancer using dynamic contrast-enhanced magnetic resonance images

Rationale and Objectives: Early prediction of pathological complete response (pCR) can facilitate personalized treatment for breast cancer patients....

Molecular-driven Foundation Model for Oncologic Pathology

Foundation models are reshaping computational pathology by enabling transfer learning, where models pre-trained on vast datasets can be adapted for ...

Multivariate Feature Selection and Autoencoder Embeddings of Ovarian Cancer Clinical and Genetic Data

This study explores a data-driven approach to discovering novel clinical and genetic markers in ovarian cancer (OC). Two main analyses were performe...

Intelligent Code Embedding Framework for High-Precision Ransomware Detection via Multimodal Execution Path Analysis

Modern threat landscapes continue to evolve with increasing sophistication, challenging traditional detection methodologies and necessitating innova...

Diffusion Generative Modeling for Spatially Resolved Gene Expression Inference from Histology Images

Spatial Transcriptomics (ST) allows a high-resolution measurement of RNA sequence abundance by systematically connecting cell morphology depicted in...

GiantHunter: Accurate detection of giant virus in metagenomic data using reinforcement-learning and Monte Carlo tree search

Motivation: Nucleocytoplasmic large DNA viruses (NCLDVs) are notable for their large genomes and extensive gene repertoires, which contribute to the...

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