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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Kate M. Im, Tomas Kirchhoff, Xianshu Wang, Todd J. Green, Clement Y. Chow, Joseph Vijai, Joshua M. Korn, Mia M. Gaudet, Zachary Fredericksen, V. Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan J. Morrison, Sue Healey, Olga M. Sinilnikova, Mark H. Greene, Marion Piedmonte, Wendy S. Rubinstein, Frans B.L. Hogervorst, Matti A. Rookus, J. Margriet Collée, Christi J. van Asperen, Hanne Meijers‐Heijboer, Cees E. Van Roozendaal, Trinidad Caldés, Pedro Pérez‐Segura, Anna Jakubowska, Jan Lubiński, Tomasz Huzarski, Paweł Blecharz, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lázaro, Ignacio Blanco, Rósa B. Barkardóttir, Marco Montagna, Emma D’Andrea, Peter Devilee, Olufunmilayo I. Olopade, Susan L. Neuhausen, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Christian F. Singer, Gad Rennert, Flavio Lejbkowicz, Irene L. Andrulis, Gord Glendon, Hilmi Özçelik, Amanda E. Toland, Maria A. Caligo, Mary Beattie, Salina Chan, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Catherine Phelan, Steven A. Narod, Esther M. John, John L. Hopper, Saundra S. Buys, Mary B. Daly, Melissa C. Southey, Mary Beth Terry, Nadine Tung, Thomas van Overeem Hansen, Ana Osório, Javier Benı́tez, M. Durán, Jeffrey N. Weitzel, Judy Garber, Ute Hamann, Susan Peock, Margaret Cook, Clare T Oliver, Radka Platte, D. Gareth Evans, Rosalind A. Eeles, Louise Izatt, Joan Paterson, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Mary Porteous, Lisa Walker, Mark T. Rogers, Lucy E. Side, Andrew K. Godwin, Rita K. Schmutzler, Barbara Wappenschmidt, Yael Laitman, Alfons Meindl, Helmut Deissler, Raymonda Varon-Mateeva, Sabine Preisler‐Adams, Karin Kast, Laurence Venat‐Bouvet, Dominique Stoppa-Lyonnet, Georgia Chenevix‐Trench, Douglas F. Easton, Robert J. Klein, Mark J. Daly, Eitan Friedman, Michael Dean, Andrew G. Clark, David Altshuler, Antonis C. Antoniou, Fergus J. Couch, Kenneth Offit
Bibliographic record
VenueHuman Genetics · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsLunenfeld-Tanenbaum Research InstituteWomen's College HospitalUniversity of TorontoCancer Care OntarioMount Sinai Hospital
FundersNational Cancer InstituteNational Health and Medical Research CouncilNational Institutes of HealthInstitut Claudius RegaudInstitut Gustave-RoussyVrije Universiteit AmsterdamErasmus Medisch CentrumSahlgrenska UniversitetssjukhusetU.S. Department of Health and Human ServicesRoyal Marsden NHS Foundation TrustUniversitair Medisch Centrum GroningenLunds UniversitetCancer Care OntarioAkademiska SjukhusetInstituto de Salud Carlos IIIOhio State UniversityRadboud UniversiteitMedical Research CouncilLeids Universitair Medisch CentrumUniversiteit LeidenInstitut National de la Santé et de la Recherche MédicaleNational Breast Cancer FoundationBreast Cancer Research FoundationRadboud Universitair Medisch CentrumCreighton UniversityNational Institute for Health and Care ResearchUppsala UniversitetCentre National de la Recherche ScientifiqueCancer AustraliaCancer Research UK
KeywordsHaplotypeBiologyGeneticsFounder effectPopulationLinkage disequilibriumPopulation bottleneckContext (archaeology)Selective sweepLocus (genetics)Allele frequencyBRCA2 ProteinMutationGermline mutationAlleleGeneMicrosatelliteDemography
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: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.354
Threshold uncertainty score0.646
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 head0.020
GPT teacher head0.263
Teacher spread0.243 · 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 designBench or experimental
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
Citations20
Published2011
Admission routes2
Has abstractno