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Record W7084105114 · doi:10.1101/2025.09.18.25335809

DLBCLone: A unified framework for neighbourhood-based genetic subtyping of lymphomas

2025· preprint· en· W7084105114 on OpenAlexafffund

Bibliographic record

VenuemedRxiv · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenome Rearrangement Algorithms
Canadian institutionsCanada's Michael Smith Genome Sciences CentreUniversity of British ColumbiaSpinal Cord Injury BCSimon Fraser University
FundersCanadian Institutes of Health Research
KeywordsSubtypingLimitingClass (philosophy)Genetic algorithmMutationContrast (vision)

Abstract

fetched live from OpenAlex

Abstract Genetic subtyping of diffuse large B-cell lymphoma (DLBCL) has been slow to gain clinical adoption. Available classifiers either leave many tumours unclassified or depend on exome-wide features and copy-number profiles, which are not always available in routine practice. We introduce DLBCLone, a neighbourhood-based framework that enables panel-aware genetic subtyping compatible with existing taxonomies. DLBCLone learns a 2-D reference map of mutation profiles (UMAP) from a labeled training cohort, freezes this map, and deterministically projects new cases into the same latent space. Class labels are then inferred by weighted K-nearest neighbours, limiting over-assignment by considering the local density of unclassified neighbours. By default, classification thresholds optimize per-class balanced accuracy, but can be adjusted to suit study needs. The framework is intended to emulate (or “clone”) existing schemas such as LymphGen or DLBClass. Trained on a harmonized cohort of 2,130 DLBCLs, DLBCLone classifiers for different gene panels achieved consistently improve classification rates relative to fixed-threshold baselines while maintaining a reasonable per-class performance. On an in-house cohort of 323 patients, it assigned an additional 98 samples without compromising accuracy relative to LymphGen. On an external exome-sequenced subset from a 1,001-patient cohort, DLBCLone achieved a 51% classification rate (vs 36% for LymphGen) at an overall accuracy of 0.70. Compared with another LymphGen approximator (LymphPlex), DLBCLone reached a 74% classification rate (vs 55%). In general, the DLBCLone-reclassified tumours had molecular features consistent with their new labels. DLBCLone provides a deterministic, reproducible, and extensible approach to genetic subtyping under real-world constraints, facilitating prospective studies that rely on either targeted panels or more comprehensive sequencing strategies. DLBCLone is open source and available in the GAMBLR.predict package ( https://github.com/morinlab/gamblr.predict ).

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)0.010
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.016
Threshold uncertainty score0.031

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.010
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0020.003
Bibliometrics0.0030.001
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0030.004
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0040.002

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 head0.282
Teacher spread0.263 · 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 designSimulation or modeling
Domainnot available
GenreMethods

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

Citations0
Published2025
Admission routes2
Has abstractyes

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