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Record W4292977925 · doi:10.1182/blood.2022015854

Genomic profiling for clinical decision making in lymphoid neoplasms

2022· article· en· W4292977925 on OpenAlexaff
Laurence de Leval, Ash A. Alizadeh, P. Leif Bergsagel, Elı́as Campo, Andrew Davies, Ahmet Doǧan, Jude Fitzgibbon, Steven M. Horwitz, Ari Melnick, William G. Morice, Ryan D. Morin, Bertrand Nadel, Stefano Pileri, Richard Rosenquist, Davide Rossi, Itziar Salaverría, Christian Steidl, Steven P. Treon, Andrew D. Zelenetz, Ranjana H. Advani, Carl E. Allen, Stephen M. Ansell, Wing C. Chan, James R. Cook, Lucy Cook, Francesco d’Amore, Stefan Dirnhofer, Martin Dreyling, Kieron Dunleavy, Andrew L. Feldman, Falko Fend, Philippe Gaulard, Paolo Ghia, John G. Gribben, Olivier Hermine, Daniel J. Hodson, Eric D. Hsi, Giorgio Inghirami, Elaine S. Jaffe, Kennosuke Karube, Keisuke Kataoka, Wolfgang Hiddemann, Won Seog Kim, Rebecca L. King, Young Hyeh Ko, Ann S. LaCasce, Georg Lenz, José I. Martín‐Subero, Miguel Á. Piris, Stefania Pittaluga, Laura Pasqualucci, Leticia Quintanilla‐Martínez, Scott J. Rodig, Andreas Rosenwald, Gilles Salles, Jesús F. San Miguel, Kerry J. Savage, Laurie H. Sehn, Gianpietro Semenzato, Louis M. Staudt, Steven H. Swerdlow, Constantine S. Tam, Judith Trotman, Julie M. Vose, Oliver Weigert, Wyndham H. Wilson, Jane N. Winter, Catherine J. Wu, Pier Luigi Zinzani, Emanuele Zucca, Adam Bagg, David W. Scott

Bibliographic record

VenueBlood · 2022
Typearticle
Languageen
FieldMedicine
TopicLymphoma Diagnosis and Treatment
Canadian institutionsUniversity of British ColumbiaSpinal Cord Injury BCSimon Fraser University
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Cancer InstituteCancer Research UKBarts Charity
KeywordsComputational biologyDiseaseGenomicsImmunophenotypingEpigeneticsBiologyGenomeBioinformaticsMedicinePathologyGeneticsGene

Abstract

fetched live from OpenAlex

With the introduction of large-scale molecular profiling methods and high-throughput sequencing technologies, the genomic features of most lymphoid neoplasms have been characterized at an unprecedented scale. Although the principles for the classification and diagnosis of these disorders, founded on a multidimensional definition of disease entities, have been consolidated over the past 25 years, novel genomic data have markedly enhanced our understanding of lymphomagenesis and enriched the description of disease entities at the molecular level. Yet, the current diagnosis of lymphoid tumors is largely based on morphological assessment and immunophenotyping, with only few entities being defined by genomic criteria. This paper, which accompanies the International Consensus Classification of mature lymphoid neoplasms, will address how established assays and newly developed technologies for molecular testing already complement clinical diagnoses and provide a novel lens on disease classification. More specifically, their contributions to diagnosis refinement, risk stratification, and therapy prediction will be considered for the main categories of lymphoid neoplasms. The potential of whole-genome sequencing, circulating tumor DNA analyses, single-cell analyses, and epigenetic profiling will be discussed because these will likely become important future tools for implementing precision medicine approaches in clinical decision making for patients with lymphoid malignancies.

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 distilled prediction

Teacher imitation

Not 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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.053
Threshold uncertainty score0.315

Codex and Gemma teacher scores by category

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

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 head0.041
GPT teacher head0.357
Teacher spread0.315 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
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

Citations161
Published2022
Admission routes1
Has abstractyes

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