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Record W1963653441 · doi:10.1517/17530059.2011.540567

Genetic risk factors for stroke in the genome-wide association era

2010· article· en· W1963653441 on OpenAlexaff
Neeraj M. Patel, Matthew B. Lanktree, Robert A. Hegele

Bibliographic record

VenueExpert Opinion on Medical Diagnostics · 2010
Typearticle
Languageen
FieldMedicine
TopicCerebrovascular and genetic disorders
Canadian institutionsWestern University
Fundersnot available
KeywordsGenome-wide association studyGenetic associationMEDLINEStroke (engine)MedicineEnthusiasmBioinformaticsGeneticsGenotypeBiologyGeneSingle-nucleotide polymorphismPsychology

Abstract

fetched live from OpenAlex

IMPORTANCE OF THE FIELD: Recent genome-wide association studies (GWASs) have renewed interest in genetic determinants of a wide range of complex traits and disorders, including stroke. AREAS COVERED IN THIS REVIEW: This paper reviews the current knowledge of genes that contribute to rare monogenic forms of stroke as well as more common 'garden variety' forms, focusing on the results of GWASs. Potential clinical pharmacogenetic and diagnostic applications of this information are considered. Publications from 1990 to September 2010 were identified through a Medline search using terms 'human stroke' and 'genetics', 'monogenic', 'familial', 'mutation', 'genome-wide association study', 'polymorphism', or 'genotype'. WHAT THE READER WILL GAIN: The review synthesizes and collates the current understanding of genes that are involved across a range of stroke subphenotypes. TAKE HOME MESSAGE: The complexity of stroke will make translation of genetic findings into new diagnostic or therapeutic tools relatively more challenging than for some other conditions and tempers the authors' enthusiasm for the eventual clinical utility of this information.

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)0.001
metaresearch head score (Gemma)0.032
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.212
Threshold uncertainty score0.976

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.032
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 integrity0.0000.001
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 head0.012
GPT teacher head0.292
Teacher spread0.279 · 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.

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

Citations0
Published2010
Admission routes1
Has abstractyes

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