Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples

Conclusion
LP GS is a promising, robust alternative to CMA in clinical settings. A total of 25 M UAHRs are sufficient for detecting aneuploidies and most microdeletions/microduplications.

Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Qian, Y., Sun, Y., Guo, X., Song, L., Sun, Y., Gao, X., Liu, B., Xu, Y., Chen, N., Chen, M., Luo, Y., Qiao, Z., Fan, L., Man, J., Zhang, K., Wang, X., Rong, T., Wang, Z., Liu, F., Zhao, J., Wei, X., Chen, M., Peng, Z., Peng, H., Sun, J., Dong, M. Tags: Copy-number variation Source Type: research