Genetics

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

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Showing 8581-8600 of 14,220 articles

Comparing metabolic engineering scenarios using simulated design-build-test-learn-cycles

Design-Build-Test-Learn (DBTL) cycles are a widely employed engineering framework in metabolic engineering. Nonetheless, their performance depends on a wide range of experimental and algorithmic design choices, whose combined effects on the successful optimization of microbial strains remain an open question. In this study, we performed in-silico DBTL cycles based on metabolic kinetic models to qu...

Explainable Deep-Learning on condition specific expression profiles reveals critical cytosines in gene regulation

Compared to other nucleotides, the cytosines stand as the most expressive one for gene regulation in plants due to its status as methylation-based epigenetic switch. Methylation of some of these cytosines may have higher impact on downstream genes, making them critical ones. To this date not much has been done to decipher the criticality of such cytosines. This is first such pioneering study in de...

Early Pregnancy DNA Methylation Signatures as Predictors of Antenatal Depressive Symptoms: A longitudinal study of DNA methylation changes

Background. Antenatal depressive symptoms (ADS) are common and underdiagnosed, particularly in low and middle income countries, and are associated wit...

Structure-aware Graph Learning Predicts RNA Editability Across Tissues and Species

Programmable A-to-I RNA editing using endogenous ADAR enzymes is emerging as a therapeutic strategy, but editability remains difficult to predict beca...

Predicting evolutionary rate as a pretraining task improves genome language model representations

Genome language models (gLM) have the potential to further understanding of regulatory genomics without requiring labeled data. Most gLMs are pretrain...

AbNovoBench: a resource and benchmarking platform for monoclonal antibody de novo sequencing

Monoclonal antibodies (mAbs) are critical in disease diagnostics and therapeutics, yet the performance of mass spectrometry (MS)-based de novo sequenc...

Large mRNA language foundation modeling with NUWA for unified sequence perception and generation

The mRNA serves as a crucial bridge between DNA and proteins. Compared to DNA, mRNA sequences are much more concise and information-dense, which makes...

Prediction of Mutations and Outcome in Gastrointestinal Stromal Tumors with Deep Learning: A Multicenter, Multinational Study

Background: Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal mesenchymal tumor, driven by tyrosine-protein kinase KIT and pla...

G2DBridge: A Multimodal Framework Linking Genetics to Disease through Imaging Intermediates

Genetic-based risk prediction is becoming increasingly available for a wide range of common diseases thanks to the growth of large-scale biobanks and ...

An agentic framework turns patient-sourced records into a multimodal map of ALS heterogeneity

ALS shows marked clinical heterogeneity, yet much real-world evidence remains trapped in unstructured reports. Here we introduce MEDSTREM, a large-lan...

GRAVITY: Dynamic gene regulatory network-enhanced RNA velocity modeling for trajectory inference and biological discovery

RNA velocity techniques have emerged as efficient tools for unraveling the complex trajectories of cell development and differentiation. However, most...

BIG-TB: A benchmark for evaluating prediction and interpretability of sequence-based machine learning using *Mycobacterium tuberculosis* genomes

Foundation models aim to learn useful representations of biological sequences. However, the applicability of these representations for a wide range of...

Transcriptomics-based modeling of methionine metabolism effectively estimates sample-wise DNA methylation activity and epigenetic aging

DNA methylation is a central epigenetic modification that regulates gene expression, maintains genomic stability, and guides cellular differentiation....

DBSOMA: A Machine Learning Method that Identifies Chemical Modulators of Transcriptional States Uncovers Effectors of Beta-Cell Maturation

The effects of perturbation on a biological system can be readily measured in terms of transcriptional changes. However, despite a wealth of transcrip...

An Explainable Machine Learning Approach to study the positional significance of histone post-translational modifications in gene regulation

Epigenetic mechanisms regulate gene-expression by altering the structure of the chromatin without modifying the underlying DNA sequence. Histone post-...

Preserving Localized Patch Semantics in VLMs

Logit Lens has been proposed for visualizing tokens that contribute most to LLM answers. Recently, Logit Lens was also shown to be applicable in autor...

Feb 2 2026 2602.01530v1
DOGMA: Weaving Structural Information into Data-centric Single-cell Transcriptomics Analysis

Recently, data-centric AI methodology has been a dominant paradigm in single-cell transcriptomics analysis, which treats data representation rather th...

Feb 2 2026 2602.01839v1
Rethinking Genomic Modeling Through Optical Character Recognition

Recent genomic foundation models largely adopt large language model architectures that treat DNA as a one-dimensional token sequence. However, exhaust...

Feb 2 2026 2602.02014v1
OLion: Approaching the Hadamard Ideal by Intersecting Spectral and $\ell_{\infty}$ Implicit Biases

Many optimizers can be interpreted as steepest-descent methods under norm-induced geometries, and thus inherit corresponding implicit biases. We intro...

Feb 1 2026 2602.01105v1
Toward Interpretable and Generalizable AI in Regulatory Genomics

Deciphering how DNA sequence encodes gene regulation remains a central challenge in biology. Advances in machine learning and functional genomics have...

Feb 1 2026 2602.01230v1
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