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

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

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...

Full description

Bibliographic Details
Main Authors: Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang, Lijie Song, Zhihong Qiao, Zhonghai Fang, Zhonghua Wang, Lipei Liu, Yunmei Chen, Saiying Yan, Xueqin Guo, Junqing Zhang, Chunna Fan, Fengxia Liu, Zhiyu Peng, Huanhuan Peng, Jun Sun, Wei Chen
Format: Article
Language:English
Published: BMC 2023-04-01
Series:BMC Medical Genomics
Subjects:
Whole genome sequencing
Genetic disorders
Clinical diagnosis
Bioinformatics pipelines
Online Access:https://doi.org/10.1186/s12920-023-01495-x

Similar Items

Similar Items