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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
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Bibliographic record
VenueNature Genetics · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBioinformatics and Genomic Networks
Canadian institutionsUniversity of British ColumbiaUniversity Health NetworkUniversité LavalCentre Hospitalier de l’Université de MontréalSimon Fraser UniversityMcGill UniversityQueen's UniversityWomen's College HospitalCentre hospitalier universitaire de QuébecRoyal Victoria HospitalUniversity of TorontoLunenfeld-Tanenbaum Research InstituteMount Sinai HospitalBC Cancer Agency
FundersNational Center for Advancing Translational SciencesNational Cancer InstituteBiocenter, University of OuluDet Sundhedsvidenskabelige Fakultet, Københavns UniversitetBC Cancer AgencyRussian Academy of SciencesNational Medical Research CouncilMedical Research CouncilHorizon 2020 Framework ProgrammeUniversity of California, San FranciscoUniversity of North Carolina at Chapel HillUniversity of Texas MD Anderson Cancer CenterNational Institute of Mental HealthSchool of Medicine, Vanderbilt UniversityNational Institutes of HealthCentre Léon BérardCentro de Investigación Biomédica en Red de CáncerNational Institute of General Medical SciencesDeutschen Konsortium für Translationale KrebsforschungSkånes universitetssjukhusUniversidad de La SabanaPomorski Uniwersytet Medyczny W SzczecinieInstitut Gustave-RoussyMinistero dello Sviluppo EconomicoAgence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du TravailUppsala UniversitetUniversidade do PortoUniversitetssjukhuset ÖrebroUmm Al-Qura UniversityBiomedical Research CouncilFederal Agency for Scientific OrganizationsClalit Health ServicesLineberger Comprehensive Cancer Center, University of North Carolina at Chapel HillHospices Civils de LyonAalborg UniversitetshospitalMedizinischen Hochschule HannoverKuopion Yliopistollinen SairaalaUniversité Paris DescartesUniversity of NottinghamUniversitetet i OsloOak FoundationLeids Universitair Medisch CentrumSimon Fraser UniversityPeter MacCallum Cancer CentreOdense UniversitetshospitalServicio Gallego de SaludInstitut BergoniéGreat Ormond Street Hospital for ChildrenÖrebro UniversitetQueen's UniversityUniversity of California, IrvineOulun YliopistoUniversität WienJapan Agency for Medical Research and DevelopmentCurtin University of TechnologyDeutsche Gesetzliche UnfallversicherungKing's College LondonImperial College LondonGentofte HospitalAalborg UniversitetCancer AustraliaRussian Foundation for Basic ResearchNational Health and Medical Research CouncilDeutsche KrebshilfeAcademia SinicaMonash UniversityInstitut National de la Santé et de la Recherche MédicaleUniversity of WestminsterWellcome TrustAgence Nationale de la RechercheMedisinske fakultet, Universitetet i OsloHunter Medical Research InstituteNottingham University Hospitals NHS TrustNational Breast Cancer FoundationQueen's University BelfastChina Medical UniversityItä-Suomen YliopistoEberhard Karls Universität TübingenOhio State UniversityUniversiteit LeidenUniversity of ChicagoUniversity of GlasgowDeutsches KrebsforschungszentrumUniversity of AberdeenCanadian Institutes of Health ResearchEuropean CommissionLon V. Smith FoundationUniversity of OxfordUniversity of TorontoGovernment of CanadaNational Institute of Environmental Health SciencesUniversiti MalayaSwedish Cancer FoundationCentre Hospitalier Universitaire de QuébecV Foundation for Cancer ResearchNRG OncologyVanderbilt UniversityUniversity Hospitals of Leicester NHS TrustRigshospitaletMinistère du Développement Économique, de l’Innovation et de l’ExportationUniversity College LondonCancer Research UKIstituto Oncologico VenetoInstitut National Du CancerMemorial Sloan-Kettering Cancer CenterFondation du cancer du sein du QuébecInstitute of Biomedical Sciences, Academia SinicaDavid F. and Margaret T. Grohne Family FoundationNational Institute for Health and Care ResearchKarolinska InstitutetUniversitätsklinikum Hamburg-EppendorfVanderbilt-Ingram Cancer CenterYale UniversityHarvard T.H. Chan School of Public HealthHelsingin ja Uudenmaan SairaanhoitopiiriBreast Cancer Research FoundationUniversity of PretoriaUniversity of New South WalesUniversity of PittsburghFondazione Italiana per la Ricerca sul CancroRoyal Marsden NHS Foundation TrustUniversité LavalHelsingin YliopistoMailman School of Public Health, Columbia UniversityUniversität HeidelbergUK Dementia Research InstituteTaiwan BiobankPontificia Universidad JaverianaUniversity of Wisconsin-MilwaukeeCancer Research InstituteMedizinische Universität WienCanada's Michael Smith Genome Sciences CentreKlinisk Institut, Aalborg UniversitetGenome CanadaBrigham and Women's HospitalInstituto de Investigación Sanitaria de Santiago de CompostelaACT GovernmentUniversity of MelbourneInstitut Claudius RegaudCalifornia Department of Public HealthU.S. Department of Health and Human ServicesHuntsman Cancer InstituteHealth Sciences Center, University of New MexicoHáskóli ÍslandsNIHR Oxford Biomedical Research CentreLandspítali HáskólasjúkrahúsMinisterio de Economía y CompetitividadMinistry of Education, Culture, Sports, Science and TechnologyOvarian Cancer Research FundFaculty of Health and Medical Sciences, University of Western AustraliaLunds UniversitetQIMR Berghofer Medical Research InstituteFundación Cellex
KeywordsBiologyGeneticsComputational biologyGeneLinkage disequilibriumExpression quantitative trait lociGenome-wide association studyGenetic associationSingle-nucleotide polymorphismAlleleHaplotypeGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
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)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.347
Threshold uncertainty score0.743
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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 head0.008
GPT teacher head0.231
Teacher spread0.224 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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
Citations189
Published2020
Admission routes2
Has abstractno