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Deciphering the impact of genomic variation on function
J Engreitz, Heather A. Lawson, Harinder Singh, Lea M. Starita, Gary C. Hon, Hannah Carter, Nidhi Sahni, Timothy E. Reddy, Xihong Lin, Yun Li, Nikhil Munshi, Maria H. Chahrour, Alan P. Boyle, Benjamin C. Hitz, A Mortazavi, Mark Craven, Karen L. Mohlke, Luca Pinello, Ting Wang, Anshul Kundaje, Feng Yue, Sarah Cody, Nina Farrell, Michael I. Love, Lara A. Muffley, Michael J. Pazin, Fairlie Reese, Eric Van Buren, Kushal K. Dey, Martin Kircher, Jian Ma, Predrag Radivojac, Brunilda Balliu, Brian A. Williams, Danwei Huangfu, Chong Y. Park, Thomas Quertermous, Jishnu Das, Michael A. Calderwood, Douglas M. Fowler, Marc Vidal, Lucas Ferreira, Sean D. Mooney, Vikas Pejaver, Jingjing Zhao, Steven Gazal, Evan Koch, Steven K. Reilly, Shamil Sunyaev, Anne E. Carpenter, Jason D. Buenrostro, Christina S. Leslie, Rachel E. Savage, Stefanija Giric, Chongyuan Luo, Kathrin Plath, Alejandro Barrera, Max Schubach, Andreas R. Gschwind, Jill E. Moore, Nadav Ahituv, S. Stephen Yi, Ingileif B. 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Bibliographic record
VenueNature · 2024
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsCanadian Institute for Advanced ResearchMontreal Heart InstituteSinai Health SystemUniversité de MontréalLunenfeld-Tanenbaum Research InstituteUniversity of Toronto
FundersNational Human Genome Research InstituteNational Cancer InstituteNational Institutes of HealthNational Institute of General Medical SciencesNovo NordiskNational Institute of Mental HealthNovo Nordisk FondenNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood Institute
KeywordsVariation (astronomy)Function (biology)Computational biologyBiologyEvolutionary biologyGeneticsPhysicsAstronomy
Abstract
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 imitationNot 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)0.002
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.013
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.003 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.003 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
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 head0.018
GPT teacher head0.348
Teacher spread0.330 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine 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 designNot applicable
Domainnot available
GenreReview
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
Citations84
Published2024
Admission routes1
Has abstractno