A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2)-Sample collection, processing and detection
10.3760/cma.j.issn.1003-9406.2020.03.020
- VernacularTitle:遗传病二代测序临床检测全流程规范化共识探讨(2)——样品采集处理及检测
- Author:
Xiufeng ZENG
1
;
Zhenpeng XU
;
Hui HUANG
;
Wubin QU
;
Ian J WU
;
Juan WANG
;
Yong GAO
;
Dongyan AN
;
Xiaoqing WANG
;
Hui XIONG
;
Yiping SHEN
;
Ming QI
;
Xuxu DENG
;
Xiong XU
;
Lele SUN
;
Zhiyu PENG
;
Weihong GU
;
Shangzhi HUANG
;
Shihui YU
Author Information
1. 明码(上海)生物科技有限公司200131
- Keywords:
Next generation sequencing;
Sample collection;
Library construction;
Data quality control
- From:
Chinese Journal of Medical Genetics
2020;37(3):339-344
- CountryChina
- Language:Chinese
-
Abstract:
With high accuracy and precision,next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases.To follow a standardized experimental procedure is the prerequisite to obtain stable,reliable,and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases.At a conference of genetic testing industry held in Shanghai,May 2019,physicians engaged in the diagnosis and treatment of genetic diseases,experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases.Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection,reception,preservation,library construction,sequencing and data quality control.Based on the discussion,a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.
