Article
Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.
Clinical genetics - 1 Apr 2017
Liang D, Wang Y, Ji X, Hu H, Zhang J, Meng L, Lin Y, Ma D, Jiang T, Jiang H, Asan, Song L, Guo J, Hu P, Xu Z
Abstract excerpt
Individuals carrying balanced translocations have a high risk of birth defects, recurrent spontaneous abortions and infertility. Thus, the detection and characterization of balanced translocations is important to reveal the genetic background of the carriers and to provide proper genetic counseling. Next-generation sequencing (NGS), which has great advantages over other methods such as karyotyping and...
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