Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping

Conclusion
To the best of our knowledge, this is the first study wherein OGM facilitate the rapid and robust detection of cryptic chromosomal reciprocal translocations in clinical practice. With the excellent performance, our findings suggest that OGM is well qualified as an accurate, comprehensive and first-line method for detecting cryptic BCRs in routine clinical testing.

Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Zhang, S., Pei, Z., Lei, C., Zhu, S., Deng, K., Zhou, J., Yang, J., Lu, D., Sun, X., Xu, C., Xu, C. Tags: Chromosomal rearrangements Source Type: research