An automated hand-held CMOS-based instrument for hand-held mutation detection via electrophoresis
Bibliographic record
Abstract
Lab-on-chip technology has tremendous potential for point-of-care and in-field medical diagnostics, but the uptake of such technologies is hampered by the high cost and large size of the instrumentation conventionally required. In the present work we demonstrate an instrument that fully automates sample preparation, enzymatic digestion and electrophoresis to implement DNA sizing and restriction fragment length polymorphism analysis for mutation detection. The instrument is largely based on a single CMOS chip, notably for fluorescence detection and high voltage generation, and can be operated in an off-the-shelf mode using low-cost pre-packaged polymeric microfluidic chips. We demonstrate the automated detection of the C282Y single nucleotide mutation in the HFE gene that underlies hereditary haemochromatosis. The system is currently in a portable form factor and could be implemented in a hand-held format. In higher volumes of manufacture, the remainder of the instrument could be moved to the CMOS chip, enabling a single chip instrument that could be housed within an inexpensive, thumb-sized device.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".