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Record W7046645910

Dissection of the Complex Genetic Architecture of Human Stature and Osteoporosis

2012· dissertation· en· W7046645910 on OpenAlexfundno aff

Bibliographic record

VenueRePub (Erasmus University, Rotterdam) · 2012
Typedissertation
Languageen
FieldPhysics and Astronomy
TopicSuperconducting and THz Device Technology
Canadian institutionsnot available
FundersNational Institute of Neurological Disorders and StrokeNational Heart, Lung, and Blood InstituteNIHR Oxford Biomedical Research CentreInstituto de Salud Carlos IIINational Institutes of HealthHjartaverndInstitut de Cardiologie de MontréalFondation Institut de Cardiologie de MontréalKulturministerietMedical Research CouncilServierSteirische WirtschaftsförderungsgesellschaftSyddansk UniversitetGöteborgs LäkaresällskapNational and Kapodistrian University of AthensBundesministerium für Verkehr, Innovation und TechnologieUmeå UniversitetSamfundet FolkhälsanVetenskapsrådetHealth Research Council of New ZealandStockholms Läns LandstingKempe FoundationHealthwayMinistry of Agriculture, Forestry and FisheriesFP7 HealthGeneralitat de CatalunyaBritish Heart FoundationBundesministerium für Bildung und ForschungKing's College LondonAustralian Cancer Research FoundationAcademy of FinlandKarolinska InstitutetDiabetestutkimussäätiöZonMwAmgen CanadaCentre for Medical Systems BiologyNovo NordiskAgency for Science, Technology and ResearchErasmus Medisch CentrumKnut och Alice Wallenbergs StiftelseErasmus Universitair Medisch Centrum RotterdamAstraZenecaEuropean CommissionNational Institute on AgingUniversity of Hong KongFolkhälsanin TutkimussäätiöNational Institute for Health and Care ResearchWellcome TrustEli Lilly CanadaCancer Research UKMarch of Dimes FoundationSvenska LäkaresällskapetNederlandse Organisatie voor Wetenschappelijk OnderzoekArthritis SocietyCedars-Sinai Medical CenterAustrian Federal Ministry of Economy, Family and YouthScottish GovernmentNational Health and Medical Research CouncilJewish General HospitalSydäntutkimussäätiöDairy Farmers of CanadaRadboud UniversiteitDonald W. Reynolds FoundationEli Lilly and CompanyCancerfondenFinska LäkaresällskapetFoundation for Cardiovascular ResearchSanofiGlaxoSmithKlineDiabetes UKJuvenile Diabetes Research Foundation InternationalProcter and GambleFondation LeducqGeelong Region Medical Research FoundationMünchner Zentrum für GesundheitswissenschaftenPfizerAmgen
KeywordsOsteoporosisBone mineralGenetic architectureDiseaseBone densityComplex diseaseBone diseaseGenetic association
DOInot available

Abstract

fetched live from OpenAlex

Osteoporosis is a common complex disease mostly characterized by decreased bone mineral density (BMD). In this thesis we show that hundreds of variants affect adult height and it is the same case for many other complex traits such as bone mineral density. We have applied the novel hypothesis-free approach of Genome-wide Association Study (GWAS) to identify those loci harboring at least one variant affecting these osteoporosis-related traits.

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)0.000
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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
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)0.0020.000

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 head0.010
GPT teacher head0.228
Teacher spread0.217 · 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

Citations0
Published2012
Admission routes1
Has abstractyes

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