Distinguishing Somatic and Germline Copy Number Events in Cancer Patient DNA Hybridized to Whole-Genome SNP Genotyping Arrays
Bibliographic record
Abstract
Chromosomal aneuploidy and segmental copy number changes are common genomic aberrations in -cancer. Copy number alterations (CNAs) arise from deletions, insertions, or duplications resulting in -chromosomal aberrations and aneuploidy. Genomes of normal cells also exhibit variable copy number called germline copy number variants (CNVs). CNVs in the general population tend to confound interpretation of predictions when attempting to extract relevant driver somatic events in cancer. In large studies of CNAs in cancer patients, it becomes necessary to accurately identify and separate CNAs and CNVs so as to prioritize candidate tumor suppressors and oncogenes. We have developed a probabilistic approach, HMM-Dosage, for segmenting and distinguishing CNAs and CNVs as separate, discrete events in cancer SNP genotyping array data. We outline the steps and computer code for the analysis of whole-genome cancer DNA hybridized to SNP genotyping arrays, focusing on distinguishing somatic CNA and germline CNVs, and describe the combined approach of HMM-Dosage for probabilistic inference and classification of somatic and germline copy number changes.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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.
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".