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Record W4417121067 · doi:10.3390/genes16121468

Artificial Intelligence-Driven Design of Antisense Oligonucleotides for Precision Medicine in Neuromuscular Disorders

2025· article· en· W4417121067 on OpenAlexafffund
Jamie Leckie, Sunny Z. Wu, Terryanne Standell, Toshifumi Yokota

Bibliographic record

VenueGenes · 2025
Typearticle
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsMuscular Dystrophy CanadaUniversity of Alberta
FundersFaculty of Medicine and Dentistry, University of AlbertaCanadian Institutes of Health ResearchMuscular Dystrophy CanadaUniversity of AlbertaAlberta Innovates - Health SolutionsWomen and Children's Health Research InstituteChildren's Health Research InstituteU.S. Department of Defense
KeywordsTranslation (biology)Precision medicineOligonucleotideExon skippingExonTranslational research

Abstract

fetched live from OpenAlex

Rare neuromuscular disorders impose a significant burden on patients, caregivers, and the health care system, yet, effective disease-modifying therapies remain limited. Antisense oligonucleotides (ASOs) have emerged as a promising therapeutic strategy, enabling targeted modulation of gene expression through mechanisms such as exon skipping, exon inclusion, and transcript degradation. However, the clinical efficacy of currently approved ASO therapies is often suboptimal. This limitation reflects not only poor target tissue uptake and delivery barriers, but also suboptimal design of ASO sequences and chemical modification patterns, which can compromise potency, safety, and translational robustness. Recent advances in machine learning have led to the development of ASO optimization platforms such as eSkipFinder and ASOptimizer, which aim to predict effective ASO sequences and chemistries for specific RNA targets. While these tools show considerable promise, their broader applicability remains limited due to a lack of comprehensive validation and the absence of integrated safety considerations. Further refinement and validation are necessary to improve their translational utility. Nevertheless, such platforms represent a critical advancement toward accelerating ASO development. By improving design precision, reducing reliance on extensive preclinical screening, and enabling researchers with limited ASO experience to generate optimized candidates, machine learning is poised to accelerate the development and clinical translation of ASO therapies for rare neuromuscular disorders.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.701
Threshold uncertainty score0.458

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.056
GPT teacher head0.358
Teacher spread0.303 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations2
Published2025
Admission routes2
Has abstractyes

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