Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics

Abstract Background Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low r...

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Bibliographic Details
Main Authors: Peng Dai, Xiaofan Zhu, Yanzheng Pei, Peng Chen, Jingjing Li, Zhi Gao, Yu Liang, Xiangdong Kong
Format: Article
Language:English
Published: Wiley 2022-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1936