Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs

• Main Authors: Yanqiu Liu (Author), Shengju Hao (Author), Xueqin Guo (Author), Linlin Fan (Author), Zhihong Qiao (Author), Yaoshen Wang (Author), Xiaoli Wang (Author), Jianfen man (Author), Lina Wang (Author), Xiaoming Wei (Author), Huanhuan Peng (Author), Zhiyu Peng (Author), Yan Sun (Author), Lijie Song (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies and copy number variants (CNVs) in prenatal diagn...