Genetics

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

11,155 articles
Stay Ahead - Weekly Genetics research updates
Subscribe
Browse Categories
Subcategories: Genetics
Showing 6238-6258 of 11,155 articles
Hierarchical refinements of cis-regulatory inputs improve scalable gene expression prediction

Deciphering the relationships between cis-regulatory elements (CREs) and target gene expression has ...

Bridging Ancestry Gaps in Genomic Risk Prediction with Tabular Foundation Models

Motivation: Models deployed for genomic prediction of diseases perform unevenly across populations, ...

Sensitive Glioma Detection and Recurrence Monitoring Using a Machine Learning Model Based on Circulating Monocytes

Background: Non-invasive diagnosis, reliable recurrence surveillance remain critical unmet needs in ...

Trustworthy ML/AI for Aging Clocks: Preventing Systematic Prediction Bias in Biological Age Estimation

Machine learning (ML)- and artificial intelligence (AI)-based aging clocks are increasingly used to ...

Assessing and Optimizing Low-Frequency Somatic Mutation Detection: A Multi-Platform High-Throughput Sequencing Perspective

The availability of multiple commercial short-read sequencing platforms necessitates systematic cros...

A Foundation Model for the Cancer Genome

Cancer is a disease of the genome, in which somatic mutations and copy-number alterations determine ...

High-dimensional Characterization of Genome-Environment Fitness Landscapes in Klebsiella pneumoniae

Background Bacterial fitness is shaped by interactions between genome variation and environmental co...

Explainable machine learning reveals an RBP regulatory logic of exon skipping

RNA binding proteins (RBPs) regulate the life cycle of an mRNA, often through RBP-RNA interactions. ...

Entropy Fusion DNA: Alignment-Free Gene Fusion Detection through Entropy and Mutual Information Descriptors

Gene fusions are clinically relevant genomic alterations and key cancer biomarkers. Their computatio...

Cooperative FOXA1-HNF4A binding emerges from motif spacing and nucleosome architecture

The pioneer factor hypothesis posits that specialized transcription factors access nucleosomal DNA t...

ModCRE-NN: Interpretable Deep Learning Harnesses Structural and Evolutionary Synergy to Predict Transcription Factor Binding Specificity

We present ModCRE-NN, a machine-learning framework and server for predicting transcription-factor (T...

Bimodal masked language modeling for bulk RNA-seq and DNA methylation representation learning

Oncologists are increasingly relying on multiple modalities to model the complexity of diseases. Wit...

Pansoma, a machine learning tool for identifying somatic variants using pangenome graphs

Somatic variant calling, the identification of mutations in non-germline cells acquired over an indi...

gTranslate: rapid and accurate translation table prediction for prokaryotic genomes

Background: Bioinformatic tools often require the prediction of protein-coding genes to make inferen...

Sequence-Based Prioritization of Promoter Regulatory Variants in Colorectal Cancer Using a DNA Foundation Model

Noncoding regulatory variants contribute to colorectal cancer (CRC) susceptibility, yet their functi...

Comparing Pathway-Informed Polygenic Risk Score Strategies: A multi-cohort evaluation of Amyloid-β

Objective: To systematically evaluate pathway-informed polygenic risk score (PRS) strategies and det...

Association of a polygenic risk score with coronary atherosclerotic burden in clinical CT angiograms

Background: Polygenic risk scores (PRS) for coronary artery disease (CAD) are associated with cardio...

Evolutionary transfer learning enables organism-wide inference of mammalian enhancer landscapes

Understanding and modeling how a single human genome concurrently encodes gene regulatory programs f...

Browse Categories