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Updated: Dec 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases
Jun Sun1, Yi Huang, Xiaodong Wang
1Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China. yiping.shen@childrens.harvard.edu.
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.
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