Genetics

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

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S1-Omni-Image: A Unified Model for Scientific Image Understanding, Generation, and Editing

We present S1-Omni-Image, an open-weight unified multimodal model for scientific image understanding, generation, and editing. Unlike general-purpose image generation models, scientific image tasks require not only high-fidelity synthesis, but also robust understanding of scientific semantics, structural relations, domain knowledge, and task intent. To this end, S1-Omni-Image builds on the scienti...

Jun 23 2026 2606.24441v1

DeepSpot-M: a multimodal foundation model for transcriptome-wide virtual spatial transcriptomics from histology

Spatial transcriptomics remains costly and low-throughput, limiting it to a small fraction of routine histology and leaving the molecular state of disease unmeasured in most patients. Predicting spatial expression from histology could address this gap, but existing methods are restricted to predefined genes and small cohorts. We present DeepSpot-M, a multimodal foundation model that predicts spati...

kontakteUR: transforming coordinates to chemical intuition to focus on essential interactions in biomolecular systems

Molecular interactions govern cellular function, making them essential to discover biomolecular mechanisms by unravelling structure-function relations...

Hierarchical classification of immune cell transcriptomes at population-scale

Accurate immune cell classification is essential for interpreting single-cell RNA sequencing (scRNA-seq) data. However, progress in automating cell ty...

Machine learning evaluation of gene expression-based ALS subtypes across brain and blood tissues

The clinical and molecular heterogeneity observed in amyotrophic lateral sclerosis (ALS) presents a challenge for diagnosis, prognosis, and treatment....

DeepCDS: Ab initio coding sequence prediction in prokaryotic short reads

Accurate coding sequence prediction in short prokaryotic metagenomic reads remains challenging due to sequence fragmentation, unknown sequence origins...

SPA-C: an hybrid tool to accurately scaffold genomes using Hi-C and Deep-Learning

Genome assembly is a computational pipeline designed to reconstruct chromosomes from small sequencing reads. Following their assembly, contiguous sequ...

Systematic Evaluation of Feature Representations for Cancer-Associated sORF Prediction in Non-coding RNA

Short open reading frames (sORFs) within non-coding RNAs (ncRNAs) have arisen as a hidden layer of gene regulation, encoding small peptides that repre...

RNAStabFormer: Region-Aware Multi-Task Hybrid Learning for RNA Stability Prediction from Pulse-Chase Transcriptomics

RNA stability is a central layer of post-transcriptional gene regulation, yet large-scale stability labels derived from pulse-chase transcriptomics de...

Geometric Deep Learning Reveals Ligandable and Cryptic RNA Binding Small Molecule Pockets (SMARTPocket)

RNAs are important therapeutic targets, however identifying ligandable small-molecule binding pockets remains a major barrier to RNA-targeted drug dis...

Simulation-based Bayesian deep learning enables uncertainty-aware tumor fraction estimation in cell-free DNA

Background: Estimating tumor fraction from whole-genome cell-free DNA sequencing is critical for liquid biopsy, but is hampered by weak signals and ba...

Hard to Halt: Automation Bias in Agent-Driven Sequencing Prior Authorization Workflows

Purpose: Prior authorization (PA) for exome or genome sequencing is a time-consuming process that impedes timely rare disease diagnosis. Large languag...

MOSAIC: Methylation-Oriented Site Analysis and Information Classifier for Robust Epigenomic Classification of Acute Leukemia in Clinical Cohorts with Variable Tumor Purity

DNA methylation-based classification offers a rapid diagnostic complement to conventional molecular workflows in acute leukemia. Existing classifiers ...

EFIQA: Explainable Fundus Image Quality Assessment via Anatomical Priors

Image quality control is vital for a wide range of downstream applications. Deep learning-based image quality assessment methods typically train class...

Jun 18 2026 2606.20108v1
Computational Methods and Challenges in Cell-Free DNA Analysis for Multi-Cancer Early Detection

Cell-free DNA (cfDNA) is a promising avenue for non-invasive multicancer early detection (MCED), in that, it can enable multiple cancer detection simu...

Jun 18 2026 2606.20174v1
Constrained hybrid modelling to predict microbial dynamics and organic matter turnover in soil systems

Soil microorganisms control organic matter cycling and largely determine how soil systems can cope with and mitigate climate change and environmental ...

Jun 18 2026 2606.20329v1
What Urine Measures Is Not What Tissue Encodes: Compartment-Specific miRNA Coordination in Prostate Cancer

Abstract Background Prostate cancer (PCa) diagnosis remains challenged by the limited specificity of prostate-specific antigen (PSA) testing, which ca...

DNA-binding specificity recognition from predicted homologous protein-DNA structures

Predicting protein DNA-binding specificity is essential for understanding gene regulation and disease mechanisms. Existing deep learning methods typic...

scGTN: Deep Siamese Graph Transformer Network for Single-cell RNA Sequencing Clustering

Single-cell RNA sequencing (scRNA-seq) serves a pivotal role in characterizing gene expression at the cellular level, enabling the identification of c...

Jun 17 2026 2606.18672v1
A Bayesian Boolean Matrix Factorization with Application to Copy Number Analysis in Cancer

Binary data factorization is common, but real-valued methods ignore discreteness and yield hard-to-interpret factors. Boolean Matrix Factorization (Bo...

Jun 16 2026 2606.17491v2
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