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Record W2013249386 · doi:10.1097/cco.0b013e328333dca4

Copy number variations and cancer susceptibility

2009· review· en· W2013249386 on OpenAlexafffund
Adam Shlien, David Malkin

Post-publication record

NatureRetraction
ReasonDuplication of/in Article;Euphemisms for Duplication;
Date9/1/2016 0:00
Flagged by OpenAlex?Yes

Source: Retraction Watch, joined by DOI. OpenAlex records retraction as is_retracted, a boolean over a state space with at least four values, so it cannot express an expression of concern, a correction or a reinstatement; it reports them as false, which reads as “fine”.

Bibliographic record

VenueCurrent Opinion in Oncology · 2009
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsHospital for Sick Children
FundersCanadian Institutes of Health Research
KeywordsCopy-number variationHuman genomeGenomeGeneticsSingle-nucleotide polymorphismBiologyCancerSNP arraySNPStructural variationCarcinogenesisDiseaseGenome instabilityGenome-wide association studyComputational biologyMedicineGeneDNAGenotypeDNA damage

Abstract

fetched live from OpenAlex

PURPOSE OF REVIEW: DNA copy number variations (CNVs) comprise a recently discovered element of genetic variation that affects a greater cumulative fraction of the genome than single-nucleotide polymorphisms (SNPs). This review discusses current understanding of the characteristics of CNVs in the human genome and explores the emerging discoveries of both constitutional and somatic CNVs in an ever-expanding variety of human cancers. RECENT FINDINGS: The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional CNVs offers insight into their role in disease susceptibility, whereas somatic CNVs identify regions of the genome involved in disease phenotype. The role of CNVs in cancer has only emerged in the last 2 years, with constitutional CNVs originally being observed in the Li-Fraumeni cancer susceptibility syndrome, and more recently in neuroblastoma. SUMMARY: It is not yet known how common or how functionally relevant CNVs will be to the process of carcinogenesis. Nonetheless, the inherent instability and structural variability that characterize cancer cell genomes make this form of genetic variation particularly intriguing to the study of cancer.

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)0.002
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: Review · Consensus signal: Review
Teacher disagreement score0.006
Threshold uncertainty score0.020

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.003

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 head0.075
GPT teacher head0.428
Teacher spread0.353 · 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
GenreReview

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

Citations80
Published2009
Admission routes2
Has abstractyes

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