Opportunities and Challenges in Using Targeted Next Generation Sequencing (NGS) for the Diagnosis of Dyslipidemias in a Clinical Setting
Bibliographic record
Abstract
Disorders of lipid metabolism, otherwise known as dyslipidemias, are among the strongest risk factors for atherosclerosis and ischemic heart disease, the leading cause of death in Canada. Targeted next generation sequencing (NGS) offers a unique opportunity to establish genetic diagnoses of inherited dyslipidemias faster and at lower costs. Recent studies have shown the utility of targeted NGS to diagnose disorders of extremely low HDL and familial chylomicronemia. Advancements in our understanding of the genetic architecture of dyslipidemias and capabilities offered by NGS technologies provide new opportunities for the incorporation of genetic information about lipid metabolism into clinical care.
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 | 0.086 | 0.087 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.005 | 0.002 |
| Science and technology studies | 0.002 | 0.006 |
| Scholarly communication | 0.008 | 0.008 |
| Open science | 0.003 | 0.005 |
| Research integrity | 0.005 | 0.009 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".