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Record W3092281949 · doi:10.1101/2020.10.06.20207753

Trans-ethnic genome-wide meta-analysis of 35,732 cases and 34,424 controls identifies novel genomic cross-ancestry loci contributing to lung cancer susceptibility

2020· preprint· en· W3092281949 on OpenAlexaff
Jinyoung Byun, Younghun Han, Yafang Li, Jun Xia, Xiangjun Xiao, Ryan Sun, Kyle M. Walsh, Ivan P. Gorlov, Olga Y. Gorlova, Wen Zhou, Rowland W. Pettit, Zhuoyi Song, Susan M. Rosenberg, Dakai Zhu, John K. Wiencke, Demetrius Albanes, Stephan Lam, Adonina Tardón, Chu Chen, Gary E. Goodman, Stig Bojeson, Hermann Brenner, Maria Teresa Landi, Mattias Johansson, Thomas Mulley, Angela Risch, H‐Erich Wichmann, Heike Bickeböller, David C. Christiani, Gad Rennert, Susanne M. Arnold, John K. Field, Sanjay Shete, Loı̈c Le Marchand, Olle Melander, Hans Brunnström, Geoffrey Liu, Angeline S. Andrew, Lambertius A. Kiemeney, Hongbing Shen, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil E. Caporaso, Angela Cox, Yun‐Chul Hong, Jian‐Min Yuan, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Apla Patel, Qing Lan, Nat Rothman, Fiona Taylor, Margaret R. Spitz, Paul Brennan, Xihong Lin, James McKay, Christopher I. Amos

Bibliographic record

VenuemedRxiv · 2020
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsSinai Health SystemPublic Health OntarioUniversity of TorontoUniversity of British Columbia
FundersCancer Research UKNational Institutes of HealthSheffield Hospitals CharityCancer Prevention and Research Institute of Texas
KeywordsLung cancerBiologyConfoundingGeneticsLung cancer susceptibilityGeneGenome-wide association studyAlleleGenomeGenomicsBioinformaticsMedicineOncologyGenotypeSingle-nucleotide polymorphismInternal medicine

Abstract

fetched live from OpenAlex

Summary Lung cancer is the leading cause of cancer death worldwide. Genome-wide association studies have revealed genetic risk factors, highlighting the role of smoking, family history, telomere regulation, and DNA damage-repair in lung cancer etiology. Many studies have focused on a single ethnic group to avoid confounding from variability in allele frequencies across populations; however, comprehensive multi-ethnic analyses may identify variants that are more likely to be causal. This large-scale, multi- ethnic meta-analyses identified 28 novel risk loci achieving genome-wide significance. Leading candidates were further studied using single-cell methods for evaluating DNA-damage. DNA-damage promoting activities were confirmed for selected genes by knockdown genes and overexpression studies.

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)0.003
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.017

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.004
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.005
Bibliometrics0.0020.003
Science and technology studies0.0010.000
Scholarly communication0.0020.000
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 head0.091
GPT teacher head0.372
Teacher spread0.281 · 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 designMeta-analysis
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

Citations3
Published2020
Admission routes1
Has abstractyes

Explore more

Same venuemedRxiv→Same topicEpigenetics and DNA Methylation→French-language works237,207→