Genetics

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

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Uncovering the Mechanistic Landscape of Regulatory DNA with Deep Learning

The regulatory genome encodes the logic that governs gene expression, enabling cells to respond to d...

Target-site Dynamics and Alternative Polyadenylation Explain Large Share of Apparent MicroRNA Differential Expression

MicroRNA (miRNA) abundance reflects a dynamic balance between biogenesis, target engagement and deca...

Expansion of DNA-Encoded Library Hits Using Generative Chemistry and Ultra-Large Compound Catalogs

DNA-encoded libraries (DELs) are powerful tools for initial hit identification, yet the combinatoria...

Building an ‘epigenetic clock’: Utilizing whole genome DNA methylation patterns to predict age in haddock, Melanogrammus aeglefinus

Age-based population models are a gold standard approach to estimate stock size and sustainable catc...

A Genomic Language Model for Zero-Shot Prediction of Promoter Variant Effects

Disease-associated genetic variants occur extensively in noncoding regions like promoters, but curre...

Generative modeling for RNA splicing prediction and design

Alternative splicing (AS) of pre-mRNA plays a crucial role in tissue-specific gene regulation, with ...

TRANCERs: Engineering enhancers into autonomous tissue-specific expression cassettes

The process by which a foreign gene is introduced into a cell and translated into a functional prote...

PathQC: Determining Molecular and Physical Integrity of Tissues from Histopathological Slides

Quantifying tissue molecular and physical integrity is essential for biobank development. However, c...

FFixR: A Machine Learning Framework for Accurate Somatic Mutation Calling from FFPE RNA-Seq Data in Cancer

Formalin-fixed paraffin-embedded (FFPE) tissues are widely used in clinical and research settings, y...

DeepVul: A Multi-Task Transformer Model for Joint Prediction of Gene Essentiality and Drug Response

Despite their potential, current precision oncology approaches benefit only a small fraction of pati...

Predicting enhancer-gene links from single-cell multi-omics data by integrating prior Hi-C information

Enhancers play an important role in transcriptional regulation by modulating gene expression from di...

Predictive models of the genetic bases underlying budding yeast fitness in multiple environments

The ability of organisms to adapt and survive depends on the effects of genes and the environment on...

scGPD: single-cell informed gene panel design for targeted spatial transcriptomics

In targeted spatial transcriptomics technologies, a key challenge is to select an informative gene p...

Leveraging AI for facioscapulohumeral muscular dystrophy prediction and omics biomarker identification

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder characterized...

Automating RNA-Ligand Interaction Modeling via a Self-Improving LLM Agent

Precise modeling of RNA-ligand interactions is essential for understanding RNA functionality and des...

PRSformer: Disease Prediction from Million-Scale Individual Genotypes

Predicting disease risk from DNA presents an unprecedented emerging challenge as biobanks approach p...

A Systematic Fairness Evaluation of Racial Bias in Alzheimer’s Disease Diagnosis Using Machine Learning Models

Alzheimer’s disease (AD) is a major global health concern, expected to affect 12.7 million Americans...

pLM-SAV: A Δ-Embedding Approach for Predicting Pathogenic Single Amino Acid Variants

Predicting whether single amino acid variants (SAVs) in proteins lead to pathogenic outcomes is a cr...

Neural network-based cross-species chromatin annotation goes beyond sequence conservation

Analogous to the Encyclopedia of DNA Elements (ENCODE) project, the Functional Annotation of ANimal ...

Long-Read epigenetic clocks identify improved brain aging predictions

Epigenetic clocks are widely used to estimate biological aging, yet most are built from array-based ...

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