Genetics

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

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Disease-specific tau polymorphs define unique protein interaction networks across proteinopathies

Tau protein aggregates exhibit distinct conformations across tauopathies, but their disease-specific...

Revive-Flow: A Foundation Model for Blood DNAm Aging

Epigenetic clocks can predict biological age but cannot prescribe the interventions needed to revers...

Edit Distance Embedding with Genomic Large Language Model

Edit distance is a fundamental metric in genomic sequence analysis, yet it is computationally expens...

Sampling Protein Language Models for Functional Protein Design

Protein language models have emerged as powerful tools for learning rich protein representations, im...

Augmented prediction of multi-species protein–RNA interactions using evolutionary conservation of RNA-binding proteins

RNA-binding proteins (RBPs) play critical roles in gene expression regulation. Recent studies have b...

Variant-resolved prediction of context-specific isoform variation with a graph-based attention model

In eukaryotes, most genes produce multiple transcript isoforms that diversify the transcriptome and ...

STARNet enables spatially resolved inference of gene regulatory networks from spatial multi-omics data

Biological tissues are composed of distinct microenvironments that spatially orchestrate gene expres...

AI methods and biologically informed data curation enable accurate RNA m5C prediction

5-methylcytosine (m5C) RNA modifications influence nearly every aspect of RNA metabolism, but their ...

Sensitive, direct detection of non-coding off-target base editor unwinding and editing in primary cells

Base editors create precise nucleotide changes in DNA, but their off-target activity remains challen...

A Transformer based method for the Cap Analysis of Gene Expression and Gene Expression Tag associated 5’ cap site prediction in RNA

5’ RNA capping is one of the major post-transcriptional modifications for the mobility and stability...

Recovery of human upper airway epithelium after smoking cessation is driven by a slow-cycling stem cell population and immune surveillance

The upper airway epithelium in humans is maintained in homeostasis by a resident population of basal...

MicroNucML: A machine learning approach for micronuclei segmentation and the refinement of nuclei-micronuclei relationships

Micronuclei (MN) are structures containing small fragments of DNA, arising from mitotic errors or fa...

Discovery and performance of DNA methylation panels for cancer detection and classification in blood

Examining DNA in a liquid biopsy for non-invasive cancer detection relies on identifying dilute sign...

YeastSAM: A Deep Learning Model for Accurate Segmentation of Budding Yeast Cells

An essential step for quantitative image analysis is cell segmentation, which is the process of defi...

SpliceSelectNet: A Hierarchical Transformer-Based Deep Learning Model for Splice Site Prediction

Accurate RNA splicing is essential for gene expression and protein function, yet the mechanisms gove...

EpiFoundation: A Foundation Model for Single-Cell ATAC-seq via Peak-to-Gene Alignment

Foundation models exhibit strong capabilities for downstream tasks by learning generalized represent...

Predicting microbial community responses to disturbance using genome-resolved trait-based life-history strategies

Understanding how microbial communities respond to disturbance remains a fundamental question in eco...

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via histone H1

DNA methylation is a conserved epigenetic modification essential for maintaining genome stability. H...

Machine learning based lineage prediction from AMR phenotypes for Escherichia coli ST131 clade C surveillance across infection types

Rising antimicrobial resistance (AMR) in Escherichia coli bloodstream infections (BSIs) in high-inco...

Iterative improvement of deep learning models using synthetic regulatory genomics

Deep learning models can accurately reconstruct genome-wide epigenetic tracks from the reference gen...

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