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Record W2909687162 · doi:10.1038/s41467-018-08081-1

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma

2019· article· en· W2909687162 on OpenAlex
Kim Wong, Louise van der Weyden, Courtney R. Schott, Alastair K. Foote, Fernando Constantino‐Casas, Sionagh Smith, Jane Dobson, Elizabeth P. Murchison, Hong Wu, Iwei Yeh, Douglas R. Fullen, Nancy M. Joseph, Boris C. Bastian, Rajiv M. Patel, Iñigo Martincorena, Carla Daniela Robles‐Espinoza, Vivek Iyer, Marieke L. Kuijjer, Mark J. Arends, Thomas Brenn, Paul W. Harms, Geoffrey A. Wood, David J. Adams

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNature Communications · 2019
Typearticle
Languageen
FieldVeterinary
TopicInfectious Diseases and Mycology
Canadian institutionsUniversity of CalgaryUniversity of Guelph
FundersBiotechnology and Biological Sciences Research CouncilMedical Research CouncilEuropean CommissionCancer Research UKWellcome Trust
KeywordsMucosal melanomaNeuroblastoma RAS viral oncogene homologPTENBiologyMelanomaGermline mutationGermlineCarcinogenesisPrimary tumorAlleleCancer researchCancerGeneMutationGeneticsMetastasisPI3K/AKT/mTOR pathway

Abstract

fetched live from OpenAlex

Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis.

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.

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 score0.027
Threshold uncertainty score0.598

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 science0.0010.000
Research integrity0.0000.000
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 head0.039
GPT teacher head0.367
Teacher spread0.328 · 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