Test development, optimization and validation of a WGS pipeline for genetic disorders

• Main Authors: Ziying Yang (Author), Xu Yang (Author), Yan Sun (Author), Yaoshen Wang (Author), Lijie Song (Author), Zhihong Qiao (Author), Zhonghai Fang (Author), Zhonghua Wang (Author), Lipei Liu (Author), Yunmei Chen (Author), Saiying Yan (Author), Xueqin Guo (Author), Junqing Zhang (Author), Chunna Fan (Author), Fengxia Liu (Author), Zhiyu Peng (Author), Huanhuan Peng (Author), Jun Sun (Author), Wei Chen (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking. Methods In this study, we...