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Record W2130461216 · doi:10.1161/strokeaha.113.001857

Stroke Genetics Network (SiGN) Study

2013· review· en· W2130461216 on OpenAlexaff
James F. Meschia, Donna K. Arnett, Hakan Ay, Robert D. Brown, Oscar Benavente, John W. Cole, Paul I. W. de Bakker, Martin Dichgans, Kimberly F. Doheny, Myriam Fornage, Raji P. Grewal, Katrina Gwinn, Christina Jern, Jordi Jiménez Conde, Julie A. Johnson, Katarina Jood, Cathy C. Laurie, Jin‐Moo Lee, Hugh S. Markus, Patrick F. McArdle, Leslie A. McClure, Braxton D. Mitchell, Reinhold Schmidt, Kathryn M. Rexrode, Stephen S. Rich, Jonathan Rosand, Peter M. Rothwell, Tatjana Rundek, Ralph L. Sacco, Pankaj Sharma, Alan R. Shuldiner, Agnieszka Słowik, Sylvia Wassertheil‐Smoller, Cathie Sudlow, Vincent Thijs, Daniel Woo, Bradford B. Worrall, Ona Wu, Steven J. Kittner, Christopher D. Anderson, Kerstin Andrén, Gunnar Andsberg, Ethem Murat Arsava, Kevin M. Barrett, Thomas Benner, Paul Bentley, Alessandro Biffi, David A. Brenner, Sherita Chapman, Yu‐Ching Cheng, Hossein Delavaran, Chris Deline, Tomasz Dziedzic, Dale M. Gamble, Eva Giralt, Anja Grazer, Andreas Gschwendtner, Caityln Hegge, Laura Heitsch, Johanna Helenius, Lukas Holmegaard, Mohammed Saiful Huq, Robert E. Irie, Rebecca D. Jackson, Petra Katschnig, Michael Katsnelson, Naïm Khoury, Selma Kilinc, Daniel Labovitz, Silvia Lanfranconi, Carl D. Langefeld, Robin Lemmens, Linxin Li, Shaneela Malik, Olle Melander, Sara Nordström, Bo Norrving, Ángel Ois, Raid G. Ossi, Leema Reddy Peddareddygari, Annie Pedersén, Joanna Pera, Mateusz Pucek, Kristiina Rannikmäe, Petra Redfors, J. Rhodes, Marta Ribasés, Neha Saraf, Markus Schuerks, Stephan Seiler, Huma U. Sheikh, Andrew M. Southerland, Mary J. Sparks, Eva Stoegerer, Jordi Sunyer, Ella Temple, Raffaella Valenti, David R. Weir, Darren Weissman, Rebecca Woodfield, Gabriel Yiin

Bibliographic record

VenueStroke · 2013
Typereview
Languageen
FieldMedicine
TopicCerebrovascular and genetic disorders
Canadian institutionsBentley (Canada)
FundersNational Center for Research ResourcesInstituto de Salud Carlos IIINational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteNational Cancer InstituteNational Institutes of HealthNational Center for Advancing Translational SciencesNational Human Genome Research InstituteWellcome TrustNational Institute of Neurological Disorders and StrokeMassachusetts General HospitalNational Institute for Health and Care ResearchNational Institute on AgingUniversity of Washington
KeywordsMedicineStroke (engine)Genome-wide association studyGenotypeCADASILGenotypingBioinformaticsSingle-nucleotide polymorphismGeneticsPathologyGeneBiologyLeukoencephalopathyDisease

Abstract

fetched live from OpenAlex

BACKGROUND AND PURPOSE: Meta-analyses of extant genome-wide data illustrate the need to focus on subtypes of ischemic stroke for gene discovery. The National Institute of Neurological Disorders and Stroke SiGN (Stroke Genetics Network) contributes substantially to meta-analyses that focus on specific subtypes of stroke. METHODS: The National Institute of Neurological Disorders and Stroke SiGN includes ischemic stroke cases from 24 genetic research centers: 13 from the United States and 11 from Europe. Investigators harmonize ischemic stroke phenotyping using the Web-based causative classification of stroke system, with data entered by trained and certified adjudicators at participating genetic research centers. Through the Center for Inherited Diseases Research, the Network plans to genotype 10,296 carefully phenotyped stroke cases using genome-wide single nucleotide polymorphism arrays and adds to these another 4253 previously genotyped cases, for a total of 14,549 cases. To maximize power for subtype analyses, the study allocates genotyping resources almost exclusively to cases. Publicly available studies provide most of the control genotypes. Center for Inherited Diseases Research-generated genotypes and corresponding phenotypes will be shared with the scientific community through the US National Center for Biotechnology Information database of Genotypes and Phenotypes, and brain MRI studies will be centrally archived. CONCLUSIONS: The Stroke Genetics Network, with its emphasis on careful and standardized phenotyping of ischemic stroke and stroke subtypes, provides an unprecedented opportunity to uncover genetic determinants of ischemic stroke.

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 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)0.002
metaresearch head score (Gemma)0.005
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: Review · Consensus signal: Review
Teacher disagreement score0.005
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.005
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0030.002
Bibliometrics0.0020.004
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.001

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 head0.040
GPT teacher head0.331
Teacher spread0.290 · 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
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

Citations65
Published2013
Admission routes1
Has abstractyes

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