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Record W2465575411 · doi:10.1016/j.ajhg.2016.05.007

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

2016· review· en· W2465575411 on OpenAlexaff
Nathalie Chami, Ming‐Huei Chen, Andrew J. Slater, John D. Eicher, Εvangelos Εvangelou, Salman M. Tajuddin, Latisha Love‐Gregory, Tim Kacprowski, Ursula M. Schick, Akihiro Nomura, Ayush Giri, Samuel Lessard, Jennifer A. Brody, Claudia Schurmann, Nathan Pankratz, Lisa R. Yanek, Ani Manichaikul, Raha Pazoki, Evelin Mihailov, W. David Hill, Laura M. Raffield, Amber Burt, Traci M. Bartz, Diane M. Becker, Lewis C. Becker, Eric Boerwinkle, Jette Bork‐Jensen, Erwin P. Böttinger, Michelle L. O’Donoghue, David R. Crosslin, Simon de Denus, Marie‐Pierre Dubé, Paul Elliott, Gunnar Engström, Michele K. Evans, James S. Floyd, Myriam Fornage, He Gao, Andreas Greinacher, Vilmundur Guðnason, Torben Hansen, Tamara B. Harris, Caroline Hayward, Jussi Hernesniemi, Heather M. Highland, Joel N. Hirschhorn, Albert Hofman, Marguerite R. Irvin, Mika Kähönen, Ethan M. Lange, Lenore J. Launer, Terho Lehtimäki, Jin Li, David C. Liewald, Allan Linneberg, Ching‐Ti Liu, Yingchang Lu, Leo‐Pekka Lyytikäinen, Reedik Mägi, Rasika A. Mathias, Olle Melander, Andres Metspalu, Nina Mononen, Mike A. Nalls, Deborah A. Nickerson, Kjell Nikus, Chris O’Donnell, Marju Orho‐Melander, Oluf Pedersen, Astrid Petersmann, Linda M. Polfus, Bruce M. Psaty, Olli T. Raitakari, Emma Raitoharju, Melissa A. Richard, Kenneth Rice, Fernando Rivadeneira, Jerome I. Rotter, Frank Schmidt, Albert V. Smith, John M. Starr, Kent D. Taylor, Alexander Teumer, Betina H. Thuesen, Eric S. Torstenson, Russell P. Tracy, Ioanna Tzoulaki, Neil A. Zakai, Caterina Vacchi‐Suzzi, Cornelia M. van Duijn, Frank J.A. van Rooij, Mary Cushman, Ian J. Deary, Digna R. Velez Edwards, Anne‐Claire Vergnaud, Lars Wallentin, Dawn Waterworth, Harvey D. White, James G. Wilson, Alan B. Zonderman, Sekar Kathiresan, Niels Grarup, Tõnu Esko, Ruth J. F. Loos, Leslie A. Lange, Nauder Faraday, Nada A. Abumrad, Todd L. Edwards, Santhi K. Ganesh, Paul L. Auer, Andrew D. Johnson, Alex P. Reiner, Guillaume Lettre

Bibliographic record

VenueThe American Journal of Human Genetics · 2016
Typereview
Languageen
FieldMedicine
TopicErythrocyte Function and Pathophysiology
Canadian institutionsUniversité de MontréalMontreal Heart Institute
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteMedical Research CouncilNational Center for Advancing Translational SciencesTartu ÜlikoolNational Institutes of HealthLundbeckfondenNational Institute for Health and Care ResearchQueen Mary University of London
KeywordsGenotypingBiologyExomeGeneticsExome sequencingComputational biologyGenotypePhenotypeEvolutionary 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)0.001
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Systematic review · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.038
GPT teacher head0.303
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 source (direct Gemma or distilled Codex), not a consensus.

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

Citations99
Published2016
Admission routes1
Has abstractno

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