Genetics

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

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A DNA foundation model predicts osteoporosis risk genes without proximity bias

Targets supported by human genetic associations are more than twice as likely to progress from clini...

Predicting targeted- and immunotherapeutic response outcomes in melanoma with single-cell Raman Spectroscopy and AI

Identifying predictive biomarkers of immunotherapeutic response in melanoma remains an outstanding c...

A Multi-Label Temporal Convolutional Framework for Transcription Factor Binding Characterization

Transcription factors (TFs) regulate gene expression through complex and co-operative mechanisms. Wh...

A Standardized Framework For Evaluating Gene Expression Generative Models

The rapid development of generative models for single-cell gene expression data has created an urgen...

HAETAE: A highly accurate and efficient epigenome transformer for tissue-specific histone modification prediction

While genomic models trained on four bases often fail to capture cell-type specificity, we introduce...

Distinct cellular DNA methylation mechanisms underlie common and rare genetic risk for brain disorders

Noncoding genetic variation contributes to brain disorder risk, but the mechanisms through which it ...

mRNA-Protein Coordination is Contextualized by Metastatic Biological Phenotypes

A central goal of conducting omics measurements is to understand how molecular features inform highe...

Continuous Diffusion Transformers for Designing Synthetic Regulatory Elements

We present a parameter-efficient Diffusion Transformer (DiT) for generating 200bp cell-type-specific...

Improving Causal Gene Identification Using Large Language Models

Genome-Wide Association Studies (GWAS) have successfully identified numerous loci associated with co...

Bacterial proteome foundation model enhances functional prediction from enzymes to ecological interactions

Bacteria play fundamental roles in ecosystems, human health, and biotechnology. Although bacterial g...

Fine-scale environmental, genetic, and temporal factors can drive the coral, sediment, and water column metagenome on reefs

Understanding the stability of microbial community assembly on coral reefs is crucial for determinin...

Streaming Autoregressive Video Generation via Diagonal Distillation

Large pretrained diffusion models have significantly enhanced the quality of generated videos, and y...

Identification and Developmental Analysis of the Facial Characteristics Associated with Sickle Cell Disease using Machine Learning

Background Sickle cell disease (SCD) is a common inherited genetic disorder and contributor to globa...

Streaming Autoregressive Video Generation via Diagonal Distillation

Large pretrained diffusion models have significantly enhanced the quality of generated videos, and y...

Quantifying Memorization and Privacy Risks in Genomic Language Models

Genomic language models (GLMs) have emerged as powerful tools for learning representations of DNA se...

Geometric Brain Signatures for Diagnosing Rare Hereditary Ataxias and Predicting Function

Hereditary cerebellar ataxias (HCAs) are rare neurodegenerative disorders characterised by progressi...

Uncovering genetic mechanisms underlying trait variation in switchgrass using explainable artificial intelligence

Uncovering the genetic architecture of quantitative traits is challenging because polygenic control ...

Benchmarking 80 binary phenotypes from the openSNP dataset using deep learning algorithms and polygenic risk score tools

Genotype-phenotype prediction plays a crucial role in identifying disease-causing single nucleotide ...

A minimal transcriptomic signature predicts intravascular tumor extension in renal cell carcinoma

Renal cell carcinoma (RCC) with venous tumor thrombus, termed renal intravascular tumor extension (R...

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