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Record W2041370587 · doi:10.1159/000131545

Computer-assisted karyotyping system of banded chromosomes

2008· article· en· W2041370587 on OpenAlexaff
Carlo V. Bruschi, F. Tedeschi, P. P. Puglisi, Nelson Marmiroli

Bibliographic record

VenueCytogenetics and Cell Genetics · 2008
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsInstitute of Genetics
Fundersnot available
KeywordsKaryotypeChromosomeComputer scienceBiologyIdentification (biology)Operator (biology)Pattern recognition (psychology)Artificial intelligenceComputational biologyGenetics

Abstract

fetched live from OpenAlex

The banding automatic system (BAS) we describe in this paper is a computer-assisted karyotyping system suitable for the analysis of both normal and abnormal karyotypes in banded chromosome specimens. In the BAS system recognition of the various features and constituents of the chromosomes is performed by an operator, whereas chromosome identification and classification are entrusted to a computer. The connection between operator and computer is the CYGEN1 program, which is tailored to distinguish chromosome morphology on the basis of the operator input band patterns alone. The karyotyping operation is therefore significantly speeded up: the operator simply has to read through a certain number of banded metaphases, encoding band-pattern data to the computer. The machine signals when the operation has gone through the whole karyotype or, for instance, when chromosomes are missing or present in extra number above the significance level from the analyzed metaphases. Chromosome identification and classification are then carried out by the computer, which performs as a real-time recognizing key. Moreover, the data being accumulated in the computer will provide a file of cytogenetic records accessible to the operator, as well as to the computer, for further diagnostic operations. The efficacy of the BAS system is demonstrated for the diagnosis of various structural aberrations, including a complex translocation. The processing of 20 metaphases by the method described takes 40-45 min, and a cytogenetic technician can make effective use of the system after 25-30 h of intensive training.

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 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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.050
Threshold uncertainty score0.835

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 science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.013
GPT teacher head0.198
Teacher spread0.185 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
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

Citations2
Published2008
Admission routes1
Has abstractyes

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