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Record W3152795894 · doi:10.1007/s00428-021-03093-7

Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path)

2021· article· en· W3152795894 on OpenAlexaff
Francesca Fenizia, Nicola Wolstenholme, Jennifer A. Fairley, Etienne Rouleau, Melanie H. Cheetham, Martin Horan, Emina Torlakovic, Benjamin Besse, Raed Al Dieri, Dina Tiniakos, Zandra C. Deans, Simon Patton, Nicola Normanno

Bibliographic record

VenueArchiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2021
Typearticle
Languageen
FieldMedicine
TopicCancer Immunotherapy and Biomarkers
Canadian institutionsUniversity of SaskatchewanRoyal University HospitalSaskatchewan Health Authority
FundersFoundation MedicineIlluminaRocheMerck KGaAGenentechAstraZenecaBristol-Myers Squibb
KeywordsIndelMedicineGenetic testingMedical physicsPathologyOncologyComputational biologyInternal medicineBiologyGenotypeGeneticsGeneSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

While tumour mutation burden (TMB) is emerging as a possible biomarker for immune-checkpoint inhibitors (ICI), methods for testing have not been standardised as yet. In April 2019, the International Quality Network for Pathology (IQN Path) launched a survey to assess the current practice of TMB testing. Of the 127 laboratories that replied, 69 (54.3%) had already introduced TMB analysis for research purposes and/or clinical applications. Fifty laboratories (72.5%) used targeted sequencing, although a number of different panels were employed. Most laboratories tested formalin-fixed paraffin-embedded material (94.2%), while 18/69 (26%) tested also cell-free DNA. Fifty-five laboratories used both single nucleotide variants and indels for TMB calculation; 20 centers included only non-synonymous variants. In conclusion, the data from this survey indicate that multiple global laboratories were capable of rapidly introducing routine clinical TMB testing. However, the variability of testing methods raises concerns about the reproducibility of results among centers.

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)0.059
metaresearch head score (Gemma)0.083
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: Methods · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.941
Threshold uncertainty score0.311

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0590.083
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0070.010
Science and technology studies0.0010.002
Scholarly communication0.0030.002
Open science0.0020.004
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.001

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 head0.090
GPT teacher head0.400
Teacher spread0.310 · 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.

Study designObservational
DomainMethods
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

Citations7
Published2021
Admission routes1
Has abstractyes

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Same venueArchiv für Pathologische Anatomie und Physiologie und für Klinische MedicinSame topicCancer Immunotherapy and BiomarkersFrench-language works237,207