Genetics

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

14,220 articles
Stay Ahead - Weekly Genetics research updates
Subscribe
Browse Categories
Subcategories: Genetics
Showing 9741-9760 of 14,220 articles

Unified modeling of cellular responses to diverse perturbation types

Predicting cellular responses to perturbations is essential for understanding gene regulation and advancing drug development. Most existing in silico perturbation models treat perturbation–cell interactions with simplistic fusion strategies that overlook the hierarchical nature of regulatory processes, leading to inaccurate predictions and poor generalization across perturbation types. We present ...

TSProm: Deciphering the Genomic Context of Tissue Specificity

Characterizing tissue-specific (TSp) gene expression is crucial for understanding development and disease; however, traditional expression-based methods often overlook the latent “regulatory grammar” embedded in the non-coding DNA, particularly in distal promoter regions. Here, we introduce TSProm, a framework that specializes a DNA foundation model (DNABERT2) to decipher the long-range regulatory...

GeneCAD: Plant Genome Annotation with a DNA Foundation Model

Accurate genome annotation remains a bottleneck in plants, where polyploidy and repeat-rich sequence confound homology- and RNA-based pipelines. We in...

Atacformer: A transformer-based foundation model for analysis and interpretation of ATAC-seq data

Chromatin accessibility profiling is an important tool for understanding gene regulation and cellular function. While public repositories house nearly...

Overcoming Extrapolation Challenges of Deep Learning by Incorporating Physics in Protein Sequence-Function Modeling

Understanding protein sequence-to-function relationship is crucial to assist studies of genetic diseases, protein evolution, and protein engineering. ...

Deep learning challenge to generate apo RNA conformations with cryptic binding site

RNA plays vital roles in diverse biological processes, thus drawing much attention as potential therapeutic target. Notably, cryptic ligand binding si...

Generative Design of Cell Type-Specific RNA Splicing Elements for Programmable Gene Regulation

Programmable control of gene expression in specific cell types is essential for both basic discovery and therapeutic intervention, yet current strateg...

Deviation Error: assessing predictions for replicate measurements in genomics and beyond

A quantitative measurement can have variation, referred to here as measurement variation, which is a probability distribution. Machine Learning models...

Preference-Based Fine-Tuning of Genomic Sequence Models for Personal Expression Prediction with Data Augmentation

Despite substantial progress in genomic foundation models, accurately predicting inter-individual variation in gene expression from DNA sequence alone...

Molecular Evolution under Macro-Perturbation Barrier and the Fixation Process of Polyploidization

The Neutral Theory in molecular evolution mainly addresses the allele frequency change of individual loci, postulating that the fixation process of a ...

Scoring gene importance by interpreting single-cell foundation models

Determining a gene’s functional significance within a cellular context has long been a challenge, as absolute expression level is an unreliable indica...

Predicting and Designing Red Fluorescent Protein Variants Using Sequence-to-Function Machine Learning Models

Fluorescent proteins (FPs) are widely used reporters for visualizing cellular structures and processes. Traditional wet-lab strategies for FP engineer...

Unraveling miRNA-Driven DNA Damage Response Networks in Pancreatic Adenocarcinoma: A Multi-Omics and Machine Learning Approach

Due to the late detection, aggressive nature, and paucity of treatment options, pancreatic adenocarcinoma (PAAD) remains one of the most lethal cancer...

Generative design and construction of functional plasmids with a DNA language model

DNA language models offer a new paradigm for sequence design, yet their ability to generate functional genomic sequences remains underexplored. Plasmi...

Circuit specific specialization of human basal ganglia astrocytes

Astrocytes shape synapses and circuits, yet human basal ganglia astrocyte diversity is incompletely defined. We built a multimodal atlas by integratin...

Deep learning analyses of DNA sequences resolve the retention of the Duffy-null resistance to Plasmodium vivax malaria in Africa

P. vivax, the most geographically widespread human malaria parasite with millions of clinical cases per year, is however quasi absent in sub-Saharan A...

SpatialProp: tissue perturbation modeling with spatially resolved single-cell transcriptomics

Perturbational studies are the gold standard for identifying causal relationships between components of biological systems. Recent technological advan...

Colon-Specific Epigenetic Clocks from Minimal Features Reveal Disease-Driven Aging

Epigenetic clocks estimate chronological and biological age from DNA methylation patterns, but conventional models typically train on hundreds of thou...

Machine-learning-based determination of sex-related bladder cancer biomarkers

Bladder cancer exhibits sex-specific behavior, occurring more frequently in males but progressing to advanced stages more commonly in females. The act...

Unimeth: A unified transformer framework for accurate DNA methylation detection from nanopore reads

Nanopore sequencing has emerged as a powerful technology for DNA methylation detection, particularly in repetitive genomic regions and at the haplotyp...

Browse Categories