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Record W2528850048 · doi:10.1158/1055-9965.epi-16-0106

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

2016· review· en· W2528850048 on OpenAlex
Christopher I. Amos, Joe Dennis, Zhaoming Wang, Jinyoung Byun, Fredrick R. Schumacher, Simon A. Gayther, Graham Casey, David J. Hunter, Thomas A. Sellers, Stephen B. Gruber, Alison M. Dunning, Kyriaki Michailidou, Laura Fachal, Kimberly F. Doheny, Amanda B. Spurdle, Yafang Li, Xiangjun Xiao, Jane Romm, Elizabeth Pugh, Gerhard A. Coetzee, Dennis J. Hazelett, Stig E. Bojesen, Charlisse Caga-Anan, Christopher A. Haiman, Ahsan Kamal, Craig Luccarini, Daniel C. Tessier, Daniel Vincent, François Bacot, David Van Den Berg, Stefanie A. Nelson, Stephen Demetriades, David E. Goldgar, Fergus J. Couch, Judith L. Forman, Graham G. Giles, David V. Conti, Heike Bickeböller, Angela Risch, Mélanie Waldenberger, Irene Brüske‐Hohlfeld, Belynda Hicks, Hua Ling, Lesley McGuffog, Andrew Lee, Karoline Kuchenbaecker, Penny Soucy, Judith Manz, Julie M. Cunningham, Katja Butterbach, Zsofia Kote‐Jarai, Peter Kraft, Liesel M. FitzGerald, Sara Lindström, Marcia Adams, James McKay, Catherine M. Phelan, Sara Benlloch, Linda E. Kelemen, Paul Brennan, Marjorie J. Riggan, Tracy A. O’Mara, Hongbing Shen, Yongyong Shi, Deborah J. Thompson, Marc T. Goodman, Sune F. Nielsen, Andrew Berchuck, Sylvie LaBoissière, Stephanie L. Schmit, Tameka Shelford, Christopher K. Edlund, Jack A. Taylor, John K. Field, Sue K. Park, Kenneth Offit, Mads Thomassen, Rita K. Schmutzler, Laura Ottini, Jonathan Marchini, Ali Amin Al Olama, Ulrike Peters, Rosalind A. Eeles, Michael F. Seldin, Elizabeth M. Gillanders, Daniela Seminara, Antonis C. Antoniou, Paul D.P. Pharoah, Georgia Chenevix‐Trench, Stephen J. Chanock, Jacques Simard, Douglas F. Easton

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueCancer Epidemiology Biomarkers & Prevention · 2016
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsLunenfeld-Tanenbaum Research InstituteCentre hospitalier universitaire de QuébecPrincess Margaret Cancer CentreMcGill University and Génome Québec Innovation Centre
FundersU.S. National Library of MedicineNational Cancer InstituteHorizon 2020Canadian Institutes of Health ResearchConseil Régional des Pays de la LoireDeutsche KrebshilfeGroupement des Entreprises Françaises dans la lutte contre le CancerFondation du cancer du sein du QuébecFrancis Crick InstituteGenome CanadaNational Institute of General Medical SciencesBundesministerium für Bildung und ForschungAssociation Anne de Bretagne GenetiqueWorld Health OrganizationEuropean CommissionBreast Cancer Research FoundationDivision of Cancer Prevention, National Cancer InstituteCancer Research UKDeutsche ForschungsgemeinschaftGovernment of CanadaCanadian Cancer Society Research InstituteNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsGenetic architectureMedicineBiologyComputational biologyGeneticsGenePhenotype

Abstract

fetched live from OpenAlex

BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits. METHODS: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background. RESULTS: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis. CONCLUSIONS: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures. IMPACT: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126-35. ©2016 AACR.

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.

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)0.004
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.910
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.000
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 head0.087
GPT teacher head0.396
Teacher spread0.309 · 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