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Record W3181720537 · doi:10.1126/science.abf6202

Mapping the cellular origin and early evolution of leukemia in Down syndrome

2021· article· en· W3181720537 on OpenAlexafffund
Elvin Wagenblast, Joana Araújo, Olga I. Gan, Sarah K. Cutting, Alex Murison, Gabriela Krivdova, Maria Azkanaz, Jessica McLeod, Sabrina Smith, Blaise Gratton, Sajid A. Marhon, Martino Gabra, Jessie J.F. Medeiros, Sanaz Manteghi, Jian Chen, Michelle Chan‐Seng‐Yue, Laura García‐Prat, Leonardo Salmena, Daniel D. De Carvalho, Sagi Abelson, Mohamed Abdelhaleem, Karen Chong, Maian Roifman, Patrick Shannon, Jean Wang, Johann Hitzler, David Chitayat, John E. Dick, Eric R. Lechman

Bibliographic record

VenueScience · 2021
Typearticle
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsMount Sinai HospitalOntario Institute for Cancer ResearchSickKids FoundationUniversity Health NetworkUniversity of TorontoHospital for Sick ChildrenPrincess Margaret Cancer Centre
FundersCanada Research ChairsCanadian Cancer SocietyHuman Frontier Science ProgramOntario Institute for Cancer ResearchCanadian Institutes of Health ResearchAlex's Lemonade Stand Foundation for Childhood CancerLeukemia and Lymphoma SocietyInternational Development Research Centre
KeywordsTrisomyPreleukemiaContext (archaeology)Down syndromeLeukemiaAneuploidyBiologyGeneticsChromosome 21HaploinsufficiencyChromosomeGenePhenotype

Abstract

fetched live from OpenAlex

Down with leukemia Down syndrome is a congenital disorder caused by the trisomy of chromosome 21, and it is associated with a greatly increased risk of leukemia with origins in fetal development. Infants with Down syndrome are often born with a preleukemic condition, which later resolves in most cases. By using gene-edited human cells implanted into mouse models, Wagenblast et al. recapitulated the development of preleukemia and leukemia in the context of Down syndrome (see the Perspective by Roberts and Vyas). A specific mutation triggered a preleukemic condition in the context of trisomy 21 as expected, but progression to full-blown leukemia required a different genetic path and was not dependent on trisomy 21. Science , abf6202, this issue p. eabf6202 ; see also abj3957, p. 155

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.001
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.026
GPT teacher head0.280
Teacher spread0.254 · 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 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

Citations89
Published2021
Admission routes2
Has abstractyes

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