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.
VenueGenetic Epidemiology · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversity of British ColumbiaUniversité LavalBC Cancer AgencyCentre hospitalier universitaire de QuébecMcGill UniversityUniversity Health NetworkUniversity of TorontoRoyal Victoria HospitalQueen's UniversityLunenfeld-Tanenbaum Research InstituteMount Sinai Hospital
FundersMedical Research and Materiel CommandFogarty International CenterNational Institute of General Medical SciencesNIH Office of the DirectorNational Human Genome Research InstituteNational Institute of Mental HealthNational Institute on AgingServicio Gallego de SaludInstituto de Salud Carlos IIICancer Council Western AustraliaCancer Council NSWCancer Council VictoriaWorld Cancer Research FundMedical Research CouncilHellenic Health FoundationFreistaat SachsenInstitut Català de la SalutCentro de Investigación Biomédica en Red de CáncerBiomedical Research CouncilFederal Agency for Scientific OrganizationsMutuelle Générale de l'Education NationaleInstitut Gustave-RoussyMinistero dello Sviluppo EconomicoRadboud Universitair Medisch CentrumNational Health and Medical Research CouncilMinistry of Education, Science and TechnologyAcademia SinicaDeutsche KrebshilfeCancer Institute NSWMedizinischen Hochschule HannoverCancer Council South AustraliaCentre International de Recherche sur le CancerKreftforeningenInstitut National Du CancerOak FoundationLeids Universitair Medisch CentrumKarolinska InstitutetAssociazione Italiana per la Ricerca sul CancroKWF KankerbestrijdingVetenskapsrådetFondation de FranceStavros Niarchos FoundationUniversity of WestminsterLigue Contre le CancerKorea Health Industry Development InstituteHungarian Scientific Research FundMinisterio de Economía y CompetitividadErasmus Medisch CentrumJapan Agency for Medical Research and DevelopmentDeutsche Gesetzliche UnfallversicherungNederlandse Organisatie voor Wetenschappelijk OnderzoekKing's College LondonFondation ARC pour la Recherche sur le CancerGentofte HospitalCalifornia Breast Cancer Research ProgramGeneralitat de CatalunyaAlexander von Humboldt-StiftungCancerfondenAmerican Cancer SocietyCancer AustraliaRadboud UniversiteitRussian Foundation for Basic ResearchKuopion Yliopistollinen SairaalaNational Medical Research CouncilNorges ForskningsrådStockholms Läns LandstingUniversiteit MaastrichtVrije Universiteit AmsterdamAcademy of FinlandMaastricht Universitair Medisch CentrumNational Heart, Lung, and Blood InstituteOhio State UniversityUniversiteit LeidenUniversity of CreteInstitut National de la Santé et de la Recherche MédicaleAgency for Science, Technology and ResearchCanadian Institutes of Health ResearchEuropean CommissionAvon Foundation for WomenBreast Cancer Research TrustFondation du cancer du sein du QuébecNational Cancer InstituteEuropean Regional Development FundMinisterio de Sanidad, Servicios Sociales e IgualdadUniversity of CambridgeNemzeti Kutatási Fejlesztési és Innovációs HivatalVirginia Department of HealthGovernment of CanadaGeorgetown UniversityBreast Cancer CampaignNational Research FoundationNIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer ResearchNational Breast Cancer FoundationAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailNational Institute of Environmental Health SciencesSwedish Cancer FoundationLon V. Smith FoundationFundación Mutua MadrileñaMinistère du Développement Économique, de l’Innovation et de l’ExportationInstitute of Biomedical Sciences, Academia SinicaDavid F. and Margaret T. Grohne Family FoundationConsejo Nacional de Ciencia y TecnologíaSundhed og Sygdom, Det Frie ForskningsrådDeutsches KrebsforschungszentrumUniversity College LondonNational Research Foundation of KoreaCalifornia Department of Public HealthGenome CanadaCancer Council TasmaniaItä-Suomen YliopistoProgramme Grants for Applied ResearchRobert Bosch StiftungCenter for Agroforestry, University of MissouriOulun YliopistoFundación CellexFisher Center for Alzheimer's Research FoundationCenters for Disease Control and PreventionNational Institute for Health and Care ResearchSusan G. Komen for the CureTaiwan BiobankU.S. Department of Health and Human ServicesAgence Nationale de la RechercheU.S. ArmyLandspítali HáskólasjúkrahúsNational Center for Advancing Translational SciencesBundesministerium für Bildung und ForschungMinistry of Education, Culture, Sports, Science and TechnologyOvarian Cancer Research FundNational Institutes of HealthDivision of Cancer Prevention, National Cancer InstituteCancer Research UKBreast Cancer Research FoundationRijksuniversiteit GroningenDeutscher Akademischer AustauschdienstYayasan Sime DarbyXunta de GaliciaDr. Ralph and Marian Falk Medical Research TrustFonds Wetenschappelijk Onderzoek
KeywordsBreast cancerGenome-wide association studyEstrogen receptorTranscriptomeBiologyGenetic associationOncologyGeneCancerEstrogen receptor alphaGeneticsComputational biologyMedicineSingle-nucleotide polymorphismGene expressionGenotype
Abstract
fetched live from OpenAlexPrevious transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.
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 imitationNot 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)0.001
metaresearch head score (Gemma)0.004
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.061
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
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.
Teacher spread0.265 · 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
