Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics

Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletio...

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Veröffentlicht in:	Clinical chemistry (Baltimore, Md.) Md.), 2025-01, Vol.71 (1), p.155-168
Hauptverfasser:	Qian, Jicheng, Wang, Huilin, Liang, Hailei, Zheng, Yuting, Yu, Mingyang, Tse, Wing Ting, Kwan, Angel Hoi Wan, Wong, Lo, Wong, Natalie Kwun Long, Wah, Isabella Yi Man, Lau, So Ling, Hui, Shuk Yi Annie, Chau, Matthew Hoi Kin, Chen, Xiaoyan, Zhang, Rui, Poon, Liona C, Leung, Tak Yeung, Liu, Pengfei, Choy, Kwong Wai, Dong, Zirui
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Female High-Throughput Nucleotide Sequencing Humans Pregnancy Prenatal Diagnosis - methods Prospective Studies Sequence Analysis, DNA - methods
Online-Zugang:	Volltext
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