Genetics

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

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How Much Does Protein Structure Really Help? A Case Study in Mutation-Induced Stability Prediction

Multimodal neural networks integrating protein language models (PLMs) with structure-derived feature...

OmniCell: Unified Foundation Modeling of Single-Cell and Spatial Transcriptomics for Cellular and Molecular Insights

Single-cell RNA sequencing (scRNA-seq) enables characterization of cellular heterogeneity but lacks ...

Organization of mouse prefrontal cortex subnetwork revealed by spatial single-cell multi-omic analysis of SPIDER-Seq

Deciphering the connectome, anatomy, transcriptome and spatial-omics integrated multi-modal brain at...

scE2TM improves single-cell embedding interpretability and reveals cellular perturbation signatures

Single-cell RNA sequencing technologies have revolutionized our understanding of cellular heterogene...

BrainBridge Characterizes Key Factors affecting Alzheimer’s Disease and Associated Phenotypes

Single-cell RNA sequencing (scRNA-seq) has significantly advanced our understanding of Alzheimer’s d...

Microenvironment-Inferred Genotyping: An Exclusionary Classifier for EGFR Amplification When DNA Testing Fails

EGFR amplification occurs in approximately 40-50% of glioblastoma (GBM) cases and is critical for tr...

SiaRNA: A Siamese Neural Network with Bidirectional Cross-Attention for Pairwise siRNA-mRNA Efficacy Prediction

Small interfering RNA (siRNA) therapeutics have extraordinary potential for targeted gene silencing....

Intrinsic DNA sequence determinants and tissue-specific regulation of human replication origins

The accurate duplication of the genome relies on the spatiotemporal control of DNA replication initi...

The expression level of CACNA1C-encoded CaV1.2 is a tipping point between promotion and inhibition of dendritic growth in neurons

The CACNA1C gene encodes the CaV1.2 L-type voltage-gated calcium channel, which plays a crucial role...

InfluenceNet: Encoding Motif Influence for Interpretable Modeling of Cis-Regulatory Syntax

Cis-regulatory elements shape gene expression by recruiting transcription factors (TFs) to DNA motif...

DTCFinder: a bench-to-bits toolkit for label-free, whole-spectrum analysis of disseminated and circulating tumor cells in liquid biopsies

Disseminated (DTCs) and circulating tumor cells (CTCs) are rare but pivotal in understanding cancer ...

Genomic foundation models reveal RNA-binding proteins regulating translation and mRNA degradation during Drosophila development

The regulation of mRNA decay and translation is crucial for cellular function and development; howev...

Programmatic design and editing of cis-regulatory elements

The development of modern genome editing and DNA synthesis has enabled researchers to edit DNA seque...

scPRINT-2: Towards the next-generation of cell foundation models and benchmarks

Cell biology has been booming with foundation models trained on large single-cell RNA-seq databases,...

A Druggable Tumor Suppressor and Leukemic Stem Cell Marker

Acute myeloid leukemia (AML) often enters remission after chemotherapy but frequently relapses due t...

A Biologically Grounded Structural Causal Model Enables cfRNA Specific In-Context Learning

Cell-free RNA (cfRNA) in human plasma provides a minimally invasive readout of tissue physiology, ye...

Integrative Genomic and Functional Analyses Reveal NINL as a Modulator of Tau Aggregation

Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer’s disease (AD)...

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