Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model
Abstract
1. Introduction
2. Results
2.1. Assessment of Chromosome Mosaicism by VeriSeq and ReproSeq NGS Methodologies in TE Biopsy Models
2.2. Concordance Analysis
2.3. Assessment of Segmental Aneuploidies by VeriSeq and ReproSeq-NGS Methodologies in TE Biopsy Models
3. Discussion
4. Materials and Methods
4.1. Experimental Design
4.2. Reconstructed Mosaicism Experimental Model
4.3. VeriSeq-NGS Protocol (Illumina)
4.3.1. Whole Genome Amplification
4.3.2. NGS Analysis
4.4. Reproseq NGS Protocol (Thermo Fisher)
4.4.1. Whole Genome Amplification and Library Preparation
4.4.2. Template Preparation and Enrichment
4.4.3. NGS Analysis
4.4.4. Concordance Analysis
4.4.5. Evaluation of Sensitivity and Specificity
4.5. Statistical Analysis
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Concordance Analysis | VeriSeq No. (95% CI) | ReproSeq No. (95% CI) |
---|---|---|
Chromosome calling comparison | 2888 | 2888 |
| 2550 | 2550 |
| 330 | 330 |
| 36 | 72 |
| 0 | 0 |
Aneuploidy call performance | ||
| 90.16% (86.64–93.02%) | 82.09% (77.98–85.71%) |
| 100% (99.86–100%) | 100% (99.86–100%) |
Whole-embryo Aneuploidy/Euploidy status comparison | ||
| 6 | 6 |
| 114 | 114 |
| 12 | 24 |
| 0 | 0 |
Aneuploid embryo call performance | ||
| 94.48% (83.95–94.98%) | 82.61% (75.24–88.53%) |
| 100% (54.07–100%) | 100% (54.07–100%) |
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Biricik, A.; Cotroneo, E.; Minasi, M.G.; Greco, P.F.; Bono, S.; Surdo, M.; Lecciso, F.; Sessa, M.; Fiorentino, F.; Spinella, F.; et al. Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model. Life 2021, 11, 340. https://doi.org/10.3390/life11040340
Biricik A, Cotroneo E, Minasi MG, Greco PF, Bono S, Surdo M, Lecciso F, Sessa M, Fiorentino F, Spinella F, et al. Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model. Life. 2021; 11(4):340. https://doi.org/10.3390/life11040340
Chicago/Turabian StyleBiricik, Anil, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, and et al. 2021. "Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model" Life 11, no. 4: 340. https://doi.org/10.3390/life11040340
APA StyleBiricik, A., Cotroneo, E., Minasi, M. G., Greco, P. F., Bono, S., Surdo, M., Lecciso, F., Sessa, M., Fiorentino, F., Spinella, F., & Greco, E. (2021). Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model. Life, 11(4), 340. https://doi.org/10.3390/life11040340