A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases(3)-Data analysis
- VernacularTitle:遗传病二代测序临床检测全流程规范化共识探讨(3)——数据分析流程
- Author:
Jun SUN
1
,
2
;
Yi HUANG
;
Xiaodong WANG
;
Wenfu LI
;
Dongyan AN
;
Yong GAO
;
Hui XIONG
;
Zaiwei ZHOU
;
Xiong XU
;
Xuxu DENG
;
Xiaoqing WANG
;
Hui HUANG
;
Zhiyu PENG
;
Wei ZHANG
;
Shihui YU
;
Liang WANG
;
Weihong GU
;
Shangzhi HUANG
;
Yiping SHEN
Author Information
- Keywords: Next generation sequencing; Bioinformatic pipeline; Data storage; Data quality control; Variant interpretation
- From: Chinese Journal of Medical Genetics 2020;37(3):345-351
- CountryChina
- Language:Chinese
- 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.
