Genetics

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

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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 fitness. However, the multigenic nature of fitness traits and genotype-by-environment interactions hinder our ability to understand the genetic basis of fitness. Here, we established fitness prediction models for 35 environments using machine learning and existing fitness data and different types o...

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 panel that captures the complexity of cellular and spatial heterogeneity within tissues. Many existing methods use prior knowledge or heuristic selection rules, such as selecting highly variable genes, which overlook gene-gene correlations and may consequently result in suboptimal coverage. To addres...

Leveraging AI for facioscapulohumeral muscular dystrophy prediction and omics biomarker identification

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder characterized by a complex genetic etiology, variable prognosis...

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

Precise modeling of RNA-ligand interactions is essential for understanding RNA functionality and designing RNA-targeted therapeutics. Current computat...

PRSformer: Disease Prediction from Million-Scale Individual Genotypes

Predicting disease risk from DNA presents an unprecedented emerging challenge as biobanks approach population scale sizes (N > 106 individuals) with u...

Adaptive transcriptional strategies underpin the host-specific virulence of the generalist oomycete Phytophthora capsici during early crown infection

Phytophthora capsici is a destructive, broad-host-range oomycete responsible for substantial losses in global agriculture. While most transcriptomic s...

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 by 2050. Machine learning (ML) algorithms have be...

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 critical challenge in molecular biology and precisio...

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 Genomes (FAANG) consortium has produced chromatin ...

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 data from peripheral tissues of predominantly Euro...

Developmental Dysregulation of Synaptic and Myelin-Related Genes in Frontal Cortex and Serum Infrared Spectroscopy Signature in the Valproic Acid Model of Autism

Neural circuits emerge during development through dynamic interactions between genetic instructions and environmental cues that shape cell fate, conne...

From microbial diversity to function; evaluating dimensionality reduction methods

Artificial Intelligence (AI), and more specifically Machine Learning (ML), have become an increasingly prevalent tool in microbial oceanography. The h...

Multiple instance learning with spatial transcriptomics for interpretable patient-level predictions: application in glioblastoma

Accurate prediction of patient outcomes remains a major challenge in oncology. While recent machine learning (ML) approaches often rely on bulk omics ...

The persistence and loss of hard selective sweeps amid ancient human admixture

The extent to which human adaptations have persisted throughout history despite strong eroding demographic events such as admixture, genetic drift, an...

RawBench: A Comprehensive Benchmarking Framework for Raw Nanopore Signal Analysis Techniques

Nanopore sequencing technologies continue to advance rapidly, offering critical benefits such as real-time analysis, the ability to sequence extremely...

Single-cell lineage trajectory defines CDK inhibitor-sensitive cells-of-origin in esophageal squamous cell cancer

Understanding the cells of origin is essential for overcoming therapy resistance in esophageal squamous cell carcinoma (ESCC). We utilized machine lea...

Boosting Transcript Assembly via Delineating Transcript Start and End Sites

Transcript assembly remains a challenging task despite the development of numerous methods. A major contributor to low assembly accuracy is the diffic...

Independent genomic trajectories shape adaptation to life on land across animal lineages

How animals repeatedly adapted to life on land is a central question in evolutionary biology. While terrestrialisation occurred independently across a...

PubMind: Literature-Based Genetic Variant Extraction and Functional Annotation Using Large Language Models

The rapid growth of biomedical literature has produced extensive functional knowledge on genetic variants, much of which remains buried in unstructure...

Deep learning models reading clinical data and liver omics strongly distinguish NASH from steatosis and suggest new genes involved in liver disease severity

Metabolic dysfunction-associated steatotic liver disease (MASLD, previously NAFLD) is a frequent co-morbidity of obesity and diabetes, with prevalence...

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