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Molecular Genetics of Medulloblastoma

2013· other· en· W1501683888 on OpenAlexaff
Mustafa Nadi, James T. Rutka

Bibliographic record

VenueEncyclopedia of Life Sciences · 2013
Typeother
Languageen
FieldMedicine
TopicGlioma Diagnosis and Treatment
Canadian institutionsUniversity of Toronto
Fundersnot available
KeywordsMedulloblastomaBiologyMolecular geneticsCerebellumGenomicsGeneticsCancerGeneCancer researchNeuroscienceComputational biologyBioinformaticsGenome

Abstract

fetched live from OpenAlex

Abstract Medulloblastoma (MB), the most common malignant paediatric brain tumour, arises in the cerebellum. Recent high‐throughput technology that includes ribonucleic acid‐based expression analysis and deoxyribonucleic acid (DNA)‐based copy number analysis, as well as whole‐genome sequencing studies have unravelled the mysteries of this embryonic tumour from clinical, histological and molecular standpoints. Studies of hereditary syndromes associated with MB have led to an increased understanding of the genomics of this tumour. Signalling pathways and growth factors, which are crucial in normal cerebellum development, are also involved in MB formation. The molecular discoveries in the last decade have led to advances in two major areas: (1) The clinical and molecular subgrouping of patients and their stratification; and (2) research being performed to individualise treatments according to the genetics of the patient's tumour. The use of extensive cancer genetic databases will ensure that future discoveries in MB pathogenesis will be made. Key Concepts: There is more than one cell of origin for MB. MBs are genetically and histologically heterogeneous. MB growth is similar to the normal growth of the cerebellum but it is growth gone awry. Signalling pathways play significant roles in cerebellar growth. Mutations in these pathways lead to tumour formation. Growth factor and DNA repair pathway mutations may drive MB formation. MB in adults is different from that in children. Metastatic MB has specific genomics that are different from the primary tumour in the same patient. The new molecular discoveries have important prognostication impact. The next era is to individualise novel therapies against each patient's MB.

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)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Other · Consensus signal: none
Teacher disagreement score0.007
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.012
GPT teacher head0.268
Teacher spread0.256 · 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 designNot applicable
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
Published2013
Admission routes1
Has abstractyes

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