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Record W4410640732 · doi:10.1007/978-3-031-84539-0_7

Precision Medicine Beyond Genomics

2025· book-chapter· en· W4410640732 on OpenAlexaff
Enrique Sanz‐García

Bibliographic record

Venuenot available
Typebook-chapter
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsPrincess Margaret Cancer CentreUniversity Health NetworkUniversity of Toronto
Fundersnot available
KeywordsGenomicsPrecision medicineComputational biologyBiologyData scienceComputer scienceGeneticsGenomeGene

Abstract

fetched live from OpenAlex

Abstract Precision oncology based on specific genomic alterations has become a standard in the management of some tumours. Different studies (NCI-MATCH, TAPUR, DRUP, or MyPathway) have used a broader approach, testing multiple genes at the same time and assigning targeted therapies in basket trials. These studies showed some encouraging results supporting the potential use of next-generation sequencing in precision oncology. However, the application in head and neck cancer (except for salivary gland tumours) is still limited. The field is moving quickly into other approaches such as whole genome and transcriptome analysis. Transcriptome analyses have successfully helped in treatment decisions in some patients within prospective studies (WINTHER, POG). In head and neck cancer, gene expression signatures evaluating hypoxia or predicting anti-epidermal growth factor receptor (EGFR) therapy response, have been explored. As immunotherapy has become a standard in the treatment of squamous head and neck carcinoma, ribonucleic acid (RNA)-based immune signatures have been proposed to select those patients with higher probabilities of response. All these analyses are based on bulk transcriptomics. Nevertheless, understanding the role of each cell and its spatial configuration could be useful in precision oncology. In this sense, single-cell RNA sequencing could provide a better understanding of the different cell populations and their activities and potentially predict treatment response. Other immune-related biomarkers such as the T-cell receptor characteristics could provide an improved insight into the resistance to immunotherapy in patients with head and neck cancer. Non-coding genome analysis may contribute to a better understanding of the mechanisms of resistance or sensitivity to drugs and aid in discovering new therapeutic targets. However, most of the current precision medicine approaches rely on tumour tissue. This is a limitation for a broader applicability due to tumor heterogeneity and the need for tumour biopsies. Easy-to-access biomarkers such as circulating tumour deoxyribonucleic acid (ctDNA) could overcome both limitations as well as provide a more dynamic overview of the disease. Further understanding of molecular biology and tumour microenvironment including multi-institution collaborative initiatives and prospective studies is needed to translate these findings into our clinical practice.

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)0.014
metaresearch head score (Gemma)0.020
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.014
Threshold uncertainty score0.074

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0140.020
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0020.001
Science and technology studies0.0010.009
Scholarly communication0.0070.007
Open science0.0020.005
Research integrity0.0050.009
Insufficient payload (model declined to judge)0.0130.006

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 head0.008
GPT teacher head0.240
Teacher spread0.232 · 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 designTheoretical or conceptual
Domainnot available
GenreOther

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 routes1
Has abstractyes

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