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Record W4220691247 · doi:10.1136/bmjopen-2021-059021

Cohort profile: genomic data for 26 622 individuals from the Canadian Longitudinal Study on Aging (CLSA)

2022· article· en· W4220691247 on OpenAlexafffundabout
Vincenzo Forgetta, Rui Li, Corinne Darmond-Zwaig, Alexandre Bélisle, Cynthia Balion, Delnaz Roshandel, Christina Wolfson, Guillaume Lettre, Guillaume Paré, Andrew D. Paterson, Lauren E. Griffith, Chris P. Verschoor, Mark Lathrop, Susan Kirkland, Parminder Raina, J. Brent Richards, Jiannis Ragoussis

Bibliographic record

VenueBMJ Open · 2022
Typearticle
Languageen
FieldMedicine
TopicGlaucoma and retinal disorders
Canadian institutionsDalhousie UniversityImpactUniversity of TorontoHospital for Sick ChildrenUniversité de MontréalHamilton Regional Laboratory Medicine ProgramMontreal Heart InstituteMcMaster UniversityPublic Health OntarioSt. Joseph’s Healthcare HamiltonJewish General HospitalMcGill UniversityMcGill Genome Centre
FundersCanadian Institutes of Health ResearchCanada Foundation for InnovationGovernment of CanadaNewfoundland and LabradorGenome Canada
KeywordsMedicineGenotypingCohortPsychosocialDiseaseGeneticsGenotypeBioinformaticsGeneInternal medicineBiologyPsychiatry

Abstract

fetched live from OpenAlex

PURPOSE: The Canadian Longitudinal Study on Aging (CLSA) Comprehensive cohort was established to provide unique opportunities to study the genetic and environmental contributions to human disease as well as ageing process. The aim of this report was to describe the genomic data included in CLSA. PARTICIPANTS: A total of 26 622 individuals from the CLSA Comprehensive cohort of men and women aged 45-85 recruited between 2010 and 2015 underwent genome-wide genotyping of DNA samples collected from blood. Comprehensive quality control metrics were measured for genetic markers and samples, respectively. The genotypes were imputed to the TOPMed reference panel. Sex chromosome abnormalities were identified by copy number profiling. Classical human leukocyte antigen gene haplotypes were imputed at two-field (four-digit). FINDINGS TO DATE: Of the 26 622 genotyped participants, 24 655 (92.6%) were identified as having European ancestry. These genomic data were linked to physical, lifestyle, medical, economic, environmental and psychosocial factors collected longitudinally in CLSA. The combined analysis, including CLSA genomic data, uncovered over 100 novel loci associated with key parameters to define glaucoma. The CLSA genomic dataset validated the contribution of a polygenic risk score to screen individuals with high fracture risk. It is also a valuable resource to directly identify common genetic variations associated with conditions related to complex traits. Taking advantage of the comprehensive interview and physical information collected in CLSA, this genomic dataset has been linked to psychosocial factors to investigate both the independent and interactive effects on cardiovascular disease. FUTURE PLANS: The CLSA overall is ongoing. Follow-up data will continue to be collected from participants in the current genomic subcohort, including the DNA methylation and metabolomic data. Ongoing studies focus on elucidating the role of genetic factors in cognitive decline and cardiovascular diseases. This genomic data resource is available on request through the CLSA data access application process.

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)0.006
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: Dataset · Consensus signal: Dataset
Teacher disagreement score0.105
Threshold uncertainty score0.211

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.006
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.007
Science and technology studies0.0020.000
Scholarly communication0.0010.000
Open science0.0020.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0050.002

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 head0.206
GPT teacher head0.430
Teacher spread0.224 · 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
GenreDataset

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

Citations81
Published2022
Admission routes3
Has abstractyes

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