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Record W4391563531 · doi:10.1016/j.xgen.2024.100500

The Mutographs biorepository: A unique genomic resource to study cancer around the world

2024· review· en· W4391563531 on OpenAlexaff
Sandra Pérdomo, Behnoush Abedi‐Ardekani, Ana Carolina de Carvalho, Aida Ferreiro-Iglesias, Valérie Gaborieau, Thomas Cattiaux, Hélène Renard, Priscilia Chopard, Christine Carreira, Andreea Spanu, Arash Nikmanesh, Ricardo Cortez Cardoso Penha, Samuel O. Antwi, Patrícia Ashton‐Prolla, Cristina Canova, Taned Chitapanarux, Riley Cox, María Paula Curado, José Carlos de Oliveira, Charles P. Dzamalala, Elenora Fabianova, Lorenzo Ferri, Rebecca C. Fitzgerald, Lenka Foretová, Steven Gallinger, Alisa M. Goldstein, Ivana Holcátová, Vladimí­r Janout, Sonata Jarmalaite, Radka Kaneva, Luiz Paulo Kowalski, Tomislav Kuliš, Παγώνα Λάγιου, Jolanta Lissowska, Reza Malekzadeh, Dana Mateș, Valerie McCorrmack, Diana Menya, Sharayu Mhatre, Blandina T. Mmbaga, André de Moricz, Péter Nyírády, Miodrag Ognjanovic, Kyriaki Papadopoulou, Jerry Polesel, Mark P. Purdue, Ștefan Rașcu, Lidia Maria Rebolho Batista, Rui Manuel Reis, Luís Felipe Ribeiro Pinto, Paula A. Rodríguez‐Urrego, Surasak Sangkhathat, Suleeporn Sangrajrang, Tatsuhiro Shibata, E. O. Stakhovsky, Beata Świątkowska, Carlos Vaccaro, José Roberto Vasconcelos de Podestá, Naveen Vasudev, Marta Vilensky, Jonathan Yeung, Давид Заридзе, Kazem Zendehdel, Ghislaine Scélo, Estelle Chanudet, Jingwei Wang, Stephen Fitzgerald, Calli Latimer, Sarah Moody, Laura Humphreys, Ludmil B. Alexandrov, Michael R. Stratton, Paul Brennan

Bibliographic record

VenueCell Genomics · 2024
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsMount Sinai HospitalUniversity Health NetworkMcGill UniversityOntario Institute for Cancer Research
FundersDivision of Cancer Epidemiology and Genetics, National Cancer InstituteNational Cancer InstituteHorizon 2020World Cancer Research FundInternational Arctic Research Center, University of Alaska, FairbanksHospital de Clínicas de Porto AlegreCancer Research UKMinisterstvo Zdravotnictví Ceské RepublikyWereld Kanker Onderzoek FondsFundação de Amparo à Pesquisa do Estado de São PauloWorld Health OrganizationEuropean CommissionWorld Cancer Research Fund InternationalNational Institutes of HealthHORIZON EUROPE Framework ProgrammeWellcome TrustCentre International de Recherche sur le Cancer
KeywordsBiorepositoryCancerGenomicsMetadataBiobankResource (disambiguation)Data scienceMedicineGenomeBioinformaticsBiologyComputer scienceWorld Wide WebInternal medicineGenetics

Abstract

fetched live from OpenAlex

Large-scale biorepositories and databases are essential to generate equitable, effective, and sustainable advances in cancer prevention, early detection, cancer therapy, cancer care, and surveillance. The Mutographs project has created a large genomic dataset and biorepository of over 7,800 cancer cases from 30 countries across five continents with extensive demographic, lifestyle, environmental, and clinical information. Whole-genome sequencing is being finalized for over 4,000 cases, with the primary goal of understanding the causes of cancer at eight anatomic sites. Genomic, exposure, and clinical data will be publicly available through the International Cancer Genome Consortium Accelerating Research in Genomic Oncology platform. The Mutographs sample and metadata biorepository constitutes a legacy resource for new projects and collaborations aiming to increase our current research efforts in cancer genomic epidemiology globally.

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: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.019
Threshold uncertainty score0.065

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.004
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.006
Science and technology studies0.0000.000
Scholarly communication0.0020.001
Open science0.0020.002
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0190.009

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 head0.019
GPT teacher head0.301
Teacher spread0.282 · 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 designNot applicable
Domainnot available
GenreReview

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

Citations16
Published2024
Admission routes1
Has abstractyes

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