Guidance and Consensus
A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis
Sun Jun, Huang Yi, Wang Xiaodong, Li Wenfu, An Dongyan, Gao Yong, Xiong Hui, Zhou Zaiwei, Xu Xiong, Deng Xuxu, Wang Xiaoqing, Huang Hui, Peng Zhiyu, Zhang Wei, Yu Shihui, Wang Liang, Gu Weihong, Huang Shangzhi, Shen Yiping
Published 2020-03-10
Cite as Chin J Med Genet, 2020, 37(3): 345-351. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.021
Abstract
Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach. This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China. The flow-chart, common software, key parameters of bioinformatics pipeline for data processing, annotation, storage and variant classification are reviewed, which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.
Key words:
Next generation sequencing; Bioinformatic pipeline; Data storage; Data quality control; Variant interpretation
Contributor Information
Sun Jun
Tianjin Medical Laboratory, Tianjin 300308, China
BGI Genomics, BGI-Shenzhen, Guangdong 518083, China
Huang Yi
Shanghai JIAI Genetics &
IVF Institute, Shanghai 200011, China
Wang Xiaodong
Cipher Gene Co., Ltd., Beijing 100080, China
Li Wenfu
GeneDock Co., Ltd., Beijing 100083, China
An Dongyan
Running Gene Inc., Beijing 100083, China
Gao Yong
Beijing GrandOmics Biotechnology Co., Ltd., Beijing 102200, China
Xiong Hui
Genokon Institute of Medical Science and Laboratory Co., Ltd., Xiamen, Fujian 360000, China
Zhou Zaiwei
Shanghai XunYin Co., Ltd., Shanghai 201402, China
Xu Xiong
YearthBio Co., Ltd., Changsha, Hunan 410205, China
Deng Xuxu
Berry Genomics Co., Ltd., Beijing 102206, China
Wang Xiaoqing
SierraVast Bio-Medical Technology Co., Ltd., Shanghai 201318, China
Huang Hui
BGI Genomics, BGI-Shenzhen, Guangdong 518083, China
Peng Zhiyu
BGI Genomics, BGI-Shenzhen, Guangdong 518083, China
Zhang Wei
Yu Shihui
KingMed Medical Diagnosis Center Co., Ltd., Guangzhou, Guangdong 510000, China
Wang Liang
Shenzhen GeneClub Consulting Co., Ltd., Shenzhen, Guangdong 518000, China
Gu Weihong
The Chinese Human Phenotype Ontology (CHPO) Consortium, Movement Disorder &
Neurogenetics Research Center, Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China
Huang Shangzhi
Peking Union Medical College, WHO Collaborating Center for Community Control of Hereditary Diseases, Beijing 100005, China
Shen Yiping
Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA
Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China
