MétaCan
Menu
Back to cohort
Record W4404029730 · doi:10.1101/2024.11.02.24316529

Genomic, phenomic, and geographic associations of leukocyte telomere length in the United States

2024· preprint· en· W4404029730 on OpenAlexaff
Tetsushi Nakao, Satoshi Koyama, Buu Truong, Md Mesbah Uddin, Anika Misra, Aniruddh P. Patel, Aarushi Bhatnagar, Vincenzo Viscosi, Caitlyn Vlasschaert, Alexander G. Bick, Christopher P. Nelson, Veryan Codd, Nilesh J. Samani, Whitney Hornsby, Patrick T. Ellinor, Pradeep Natarajan

Bibliographic record

VenuemedRxiv · 2024
Typepreprint
Languageen
FieldMedicine
TopicTelomeres, Telomerase, and Senescence
Canadian institutionsQueen's University
FundersMassachusetts General Hospital
KeywordsTelomereGeneticsBiologyEvolutionary biologyComputational biologyGeographyDNA

Abstract

fetched live from OpenAlex

Abstract Leukocyte telomere length (LTL) is associated with multiple conditions, including cardiovascular diseases and neoplasms, yet their differential associations across diverse individuals are largely unknown. We estimated LTL from blood-derived whole genome sequences in the All of Us Research Program (n=242,494) with diverse backgrounds across the United States. LTL was associated with lifestyle, socioeconomic status, biomarkers, cardiometabolic diseases, and neoplasms with heterogeneity across genetic ancestries and sexes. Geographical analysis revealed that significantly longer LTL clustered in the West Coast and Central Midwest, while significantly shorter LTL clustered in the Southeast in the United States, accounting for age, sex, and genetic ancestry. Genome-wide association study and meta-analysis with the UK Biobank (n=679,972) found 234 non-overlapping loci, of which 36 were novel. We identified 4 novel loci unique to non-European-like populations and one specific to females. Rare variant analysis uncovered 7 novel genes, providing new functional insights. Our study highlighted previously underappreciated contextual heterogeneities of phenomic and genomic associations with LTL.

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)0.001
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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.013
Threshold uncertainty score0.026

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.034
GPT teacher head0.285
Teacher spread0.251 · 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

Citations4
Published2024
Admission routes1
Has abstractyes

Explore more

Same venuemedRxivSame topicTelomeres, Telomerase, and SenescenceFrench-language works237,207