Clinical Utility of Next Generation Sequencing in Diagnosis, Prognosis and Treatment of Acute Myeloid Leukemia and Myelodysplastic Syndrome
Bibliographic record
Abstract
Acute myeloid leukemia (AML) and Myelodysplastic Syndrome (MDS) are a heterogeneous group of disorders that share a relatively common biology with higher incidence of morbidity and mortality. In clinical diagnostic laboratories, next-generation sequencing (NGS) has provided opportunities for hematologic patients with initial diagnosis, monitoring the disease progression, and recognition of the relapse. NGS has been used to identify a high degree of recurrent mutations and fusions in AML and MDS. Approximately half of AML and MDS patients had normal cytogenetic results. The recurrent mutations include but not limited to NPM1, FLT3, CEBPA, IDH1/2, TP53, RUNX1, DNMT3A, and ASXL1 in AML, and ASXL1, ETV6, EZH2, RUNX1, and TP53 in MDS. In this article, we have analyzed NGS data from 3867 patients. The results demonstrated the clinical utility of NGS in diagnosis, prognosis, and treatment of AML and MDS.
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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 | 0.003 | 0.005 |
| 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 | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
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".