Genetics

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

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Deep Learning of High-throughput Transcription Factor-DNA Binding Affinity Data: Quantitative Comparison with Pairwise-Additive Models

Transcription factors (TFs) regulate gene expression by binding to specific DNA sequences. Widely us...

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A-Related Disorders

SCN2A-related disorders result from pathogenic variants in the gene encoding for the voltage-gated s...

Transcript architecture predetermines m6A remodeling and sensory neuron vulnerability in chemotherapy-induced peripheral neuropathy

Whether individual transcripts carry intrinsic features that predetermine their response to external...

DamageFormer: a damage-aware multimodal deep learning framework for DNA lesion identification from nanopore sequencing

Background: DNA lesions arise from endogenous metabolism and environmental exposure and are the majo...

A Multimodal Neural Network Model for Early Recurrence Prediction in Lung Adenocarcinoma

Lung adenocarcinoma (LUAD), a subtype of non-small cell lung cancer (NSCLC), is the most common prim...

Divergence-Suppressing Couplings for Rectified Flow

The promise of Rectified Flow rests on producing self-generated couplings whose trajectories are str...

Token-Space Mask Prediction for Efficient Vision Transformer Segmentation

Query-based Vision Transformer segmentation models typically reconstruct dense spatial feature maps ...

PACE: Geometry-Aware Bridge Transport for Single-Cell Trajectory Inference

Single-cell trajectory inference from destructive time-course snapshots is fundamentally ill-posed: ...

EpiReasoner: An Integrated Artificial Intelligence Framework for Phenotype-to-Genotype Reasoning in Plant Epidermal Development

Achieving high-throughput and precise phenotypic quantification and imaging modalities of stomatal a...

GCE-MIL: Faithful and Recoverable Evidence for Multiple Instance Learning in Whole-Slide Imaging

Multiple instance learning (MIL) is the standard approach for whole-slide image (WSI) classification...

Elevated serum apolipoprotein B and lipoprotein remodelling distinguish adults with HLH from HLH mimics and controls

Haemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome cha...

Evo 2 Predicts Cardiomyopathy-Associated Variants and Elucidates Their Underlying Mechanisms

Background: Although advances in next-generation sequencing have accelerated the identification of g...

Hidden State Genomics: Graph-Based Analysis of Sparse Auto-Encoder Feature Activity in Genomic Language Models

Pre-trained genomic language model (gLM) representations have been anticipated to enable enhanced de...

OpenBase: a universal framework for high-accuracy single-molecule detection of diverse non-canonical DNA bases using nanopore sequencing

Nanopore sequencing holds great potential for the direct detection of non-canonical DNA bases from e...

Artificial intelligence-generated digital Romberg test for peripheral neuropathy monitoring.

Background and Objectives Patients with peripheral neuropathies (PN) commonly exhibit balance impair...

Deciphering conformational preferences of RNA in protein-RNA recognition

Conformational plasticity of RNAs plays important roles in recognizing RNA-binding proteins, and is ...

CN-RNN: a Deep Learning Framework for Copy Number Variation Detection with Exome Sequencing Data

Copy number variations (CNVs) are major structural genomic variants that contribute to a wide range ...

Design of DNA Aptamers for Lyme disease Diagnosis Combining experimental and numerical approaches

Aptamers are single stranded DNA or RNA molecules selected for their high affinity and specificity t...

Testing the mutation accumulation hypothesis in aging with AlphaGenome

The mutation accumulation (MA) hypothesis posits that somatic mutations progressively escape selecti...

Benchmarking long-context genome language models on biosynthetic gene clusters

Recent advances in language models for natural language processing have spread to the field of genom...

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