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Record W2280557044 · doi:10.1016/j.gendis.2016.02.001

Gene editing: A new step and a new direction toward finding a cure for Duchenne muscular dystrophy (DMD)

2016· article· en· W2280557044 on OpenAlexafffund
Jim Hu, Emily Xia, Liu Yang, Xiao Xiao

Bibliographic record

VenueGenes & Diseases · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCRISPR and Genetic Engineering
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institutes of HealthCystic Fibrosis CanadaCanadian Institutes of Health ResearchHospital for Sick ChildrenNational Institute of Neurological Disorders and StrokeCystic Fibrosis Foundation Therapeutics
KeywordsDuchenne muscular dystrophyDystrophinExonMuscular dystrophyExon skippingGeneMuscle diseaseDiseaseNeuromuscular diseaseMedicineGenome editingBioinformaticsGenetic enhancementGeneticsBiologyInternal medicineAlternative splicingCRISPR

Abstract

fetched live from OpenAlex

Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disease affecting one out of 3500 male births. Patients usually succumb to the disease by age 25. It has been shown that skipping exons of the DMD gene that contain disease-causing mutations from the pre-mRNA can result in a shortened, but functional, dystrophin protein that could bring clinical benefits to patients. A recent breakthrough has been reported in Science by three groups who demonstrated that genetically deleting exon 23 by gene editing can restore the expression of dystrophin (albeit a shortened version) and improve the muscle function in a mouse model of DMD.

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: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.381
Threshold uncertainty score0.592

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
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 head0.013
GPT teacher head0.278
Teacher spread0.265 · 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

Citations0
Published2016
Admission routes2
Has abstractyes

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