Genetics

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

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OpenAc4C: A gateway to decode the landscape, regulation and pathogenesis of N4-acetylcytidine (ac4C) epitranscriptome

N4-acetylcytidine (ac4C) is an ancient and highly conserved chemical marker found in all domains of ...

Fine scale structural information substantially improves multivariate regression model for mRNA in-vial degradation prediction

The success of COVID-19 mRNA vaccines has made the in-solution stability optimization of mRNAs a key...

High-dimensional Many-to-many-to-many Mediation Analysis

We study high-dimensional mediation analysis in which exposures, mediators, and outcomes are all mul...

Eukaryote-to-eukaryote gene transfer pervades the genome evolution of Rhizaria

Lateral gene transfer (LGT) has contributed to the genetic makeup of various eukaryotic lineages, ye...

Synapse: Evolving Job-Person Fit with Explainable Two-phase Retrieval and LLM-guided Genetic Resume Optimization

Modern recruitment platforms operate under severe information imbalance: job seekers must search ove...

A Transformer-Based 2.5D Deep Learning Model for Preoperative Prediction of Lymph Node Metastasis in Papillary Thyroid Carcinoma

Background: Accurate preoperative prediction of lymph node metastasis (LNM) in papillary thyroid car...

Pan-Pharmacological Drug-Target Interaction Prediction with 3D-Informed Protein Encoding at Scale

Accurate prediction of drug-target binding affinity across multiple pharmacological endpoints remain...

The End of Aging Clocks: Training Foundation Models to Reason in Aging and Longevity

The aging clock paradigm has yielded dozens of specialist models that can estimate chronological age...

Contrastive Conformal Sets

Contrastive learning produces coherent semantic feature embeddings by encouraging positive samples t...

MEIsensor: a deep-learning method for mobile element insertion discovery

Mobile element insertions (MEIs) are a critical source of structural variation in the human genome, ...

TOGGLE delineates fate and function within individual cell types via single cell transcriptomics

Cells that appear transcriptionally identical can maintain vastly different functions or fate, an en...

Incorporating contextual information into KGWAS for interpretable GWAS discovery

Genome-Wide Association Studies (GWAS) identify associations between genetic variants and disease; h...

LAMBDA: A Prophage Detection Benchmark for Genomic Language Models

Transformer-based genomic sequence models represent an emerging frontier in computational biology. Y...

Predicting Unseen Gene Perturbation Response Using Graph Neural Networks with Biological Priors

Predicting transcriptional responses to genetic perturbations is a central challenge in functional g...

Scaling and Generalization of Discrete Diffusion Models for Tumor Phylogenies

Tumor phylogenies - rooted trees encoding clonal ancestry and mutation acquisition - are central to ...

FoundedPBI: Using Genomic Foundation Models to predict Phage-Bacterium Interactions

The scalability of phage therapy as a viable alternative or complement to antibiotics is limited by ...

Utility of 3D Facial Analysis As A Biomarker In Rare Diseases Exploration with Hereditary Angioedema

Importance: People living with rare diseases (PLWRD) often face significant challenges in receiving ...

PMT: Plain Mask Transformer for Image and Video Segmentation with Frozen Vision Encoders

Vision Foundation Models (VFMs) pre-trained at scale enable a single frozen encoder to serve multipl...

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