MétaCan
Menu
Back to cohort
Record W2131538613 · doi:10.1016/j.ajhg.2014.12.003

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

2015· article· en· W2131538613 on OpenAlexaff
Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger, Sundararajan Venkatesh, Kamalendra Singh, Iteen Cheng, Natalie Mikita, Jayapalraja Thilagavathi, Jae Lee, Stefan G. Sarafianos, Abigail R. Benkert, Alanna E. Koehler, Anni Zhu, Victoria Trovillion, Madeleine McGlincy, Thierry Morlet, Matthew A. Deardorff, A. Micheil Innes, Chitra Prasad, Albert E. Chudley, Irene Lee, Carolyn K. Suzuki

Bibliographic record

VenueThe American Journal of Human Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsChildren’s Health Research InstituteUniversity of ManitobaWestern UniversityAlberta Children's HospitalUniversity of Calgary
FundersDivision of Undergraduate EducationDivision of ChemistryNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesHoward Hughes Medical InstituteNational Science FoundationNational Institutes of HealthNew Jersey Health Foundation
KeywordsBiologyMitochondrionMitochondrial DNAGeneticsMutationMitochondrial diseaseCytochrome c oxidaseCompound heterozygosityCell biologyMolecular biologyGene

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0050.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.002
Science and technology studies0.0010.002
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.025
GPT teacher head0.277
Teacher spread0.252 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
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

Citations170
Published2015
Admission routes1
Has abstractno

Explore more

Same venueThe American Journal of Human GeneticsSame topicMitochondrial Function and PathologyFrench-language works237,207