Genetics

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

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Evolutionary-scale protein language models uncover beneficial variants in a Sorghum bicolor diversity panel

Quantitative genetic approaches such as genome-wide association studies and genomic prediction are widely used to identify favourable genetic variation, but they have limited resolution due to linkage disequilibrium. Comparative genomics approaches, especially Protein Language Models (PLMs), have emerged as powerful alternatives, by detecting phylogenetic residue conservation (PRC) across evolutio...

TB-Bench: A Systematic Benchmark of Machine Learning and Deep Learning Methods for Second-Line TB Drug Resistance Prediction

Drug-resistant tuberculosis (TB), characterized by prolonged treatment regimens and suboptimal treatment outcomes, remains a major obstacle to global TB elimination. Advances in sequencing technologies have enabled the development of machine-learning (ML) approaches, including deep-learning (DL) methods, to predict drug resistance directly from genomic data. However, a significant gap remains in t...

Pipette: Encoding scientific literature into an executable Skill Graph for multi-agent bioinformatics

The cost of genomic sequencing has fallen by several orders of magnitude, yet data analysis remains a bottleneck concentrated among researchers with s...

CRIS: A Centralized Resource for High-Quality RNA Structure and Interaction Data in the AI Era

As interest in RNA-based therapeutics expands, there is a growing demand for RNA structure elucidation and RNA-RNA interactions in both academic and c...

EvoLen: Evolution-Guided Tokenization for DNA Language Model

Tokens serve as the basic units of representation in DNA language models (DNALMs), yet their design remains underexplored. Unlike natural language, DN...

Apr 9 2026 2604.08698v1
Plug-and-Play Logit Fusion for Heterogeneous Pathology Foundation Models

Pathology foundation models (FMs) have become central to computational histopathology, offering strong transfer performance across a wide range of dia...

Apr 9 2026 2604.07779v1
Introducing Echo Networks for Computational Neuroevolution

For applications on the extreme edge, minimal networks of only a few dozen artificial neurons for event detection and classification in discrete time ...

Apr 9 2026 2604.08204v1
The Mechanistic Invariance Test: Genomic Language Models Fail to Learn Positional Regulatory Logic

Genomic language models (gLMs) have transformed computational biology, achieving state-of-the-art performance across genomic tasks. Yet a fundamental ...

Apr 8 2026 2604.06549v1
ECLIPSE: A Composable Pipeline for Predicting ecDNA Formation, Evolution, and Therapeutic Vulnerabilities in Cancer

Extrachromosomal DNA (ecDNA) represents one of the most pressing challenges in cancer biology: circular DNA structures that amplify oncogenes, evade t...

Apr 8 2026 2604.06569v1
Transcriptomic Models for Immunotherapy Response Prediction Show Limited Cross-cohort Generalisability

Immune checkpoint inhibitors (ICIs) have transformed cancer therapy; yet substantial proportion of patients exhibit intrinsic or acquired resistance, ...

Apr 7 2026 2604.05478v1
HumANDiff: Articulated Noise Diffusion for Motion-Consistent Human Video Generation

Despite tremendous recent progress in human video generation, generative video diffusion models still struggle to capture the dynamics and physics of ...

Apr 7 2026 2604.05961v1
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 life. Recent advancements in sequencing techniques...

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 objective. However, we still lack a complete unde...

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

We study high-dimensional mediation analysis in which exposures, mediators, and outcomes are all multivariate, and both exposures and mediators may be...

Apr 3 2026 2604.02886v1
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, yet its prevalence and long-term significance remain...

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 over massive, rapidly changing collections of posting...

Apr 2 2026 2604.02539v1
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 carcinoma (PTC) remains challenging, particularly in ...

Genome-Wide Variations of End Motif in Cell-Free DNA Fragments Distinguish Immunotherapy Responders from Non-Responders in Head and Neck Cancer: A Multi-Institute Prospective Study

Reliable, minimally invasive biomarkers for predicting immunotherapy response in head and neck squamous cell carcinoma (HNSCC) remain an unmet clinica...

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

Accurate prediction of drug-target binding affinity across multiple pharmacological endpoints remains challenging, as most deep learning methodologies...

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 or mortality from virtually any biodata type. Yet...

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