Human Embryo MtDNA Heteroplasmy Dynamics and Clinical Significance of mtDNA variation in Human Pre-Implantation Embryos from Fertile and Infertile Populations
Bibliographic record
Abstract
This project used two different cell lines with known allele frequencies at specific mtDNA positions to identify the bias in whole genome amplification (WGA), and to establish an optimized pipeline for accurately detecting mtDNA variants. Allele frequency thresholds of 5% and 10% were established for REPLI-g and SurePlex WGA, respectively. Testing different DNA extraction methods found that bulk DNA and circular DNA protocols perform similarly. The optimized variant detection pipeline was then applied to donated aneuploid embryos to analyze mtDNA variant distribution across different cell lineages of the blastocyst, and results indicated that variant distribution is concordant among the different cell types. The established pipeline was lastly applied to 36 familial cases that included embryos with known IVF outcomes (Implanted/Delivered, Spontaneous Abortion, Biochemical, Not Implanted) for which transmission of variants and heteroplasmy dynamics were assessed. This project lays important groundwork for implementing mtDNA variant analysis in a clinical PGT-M setting.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| 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 | 0.000 |
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".