Computer-assisted karyotyping system of banded chromosomes
Bibliographic record
Abstract
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 machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.009 | 0.003 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".