A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

ABSTRACT:

Background

Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn-around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively assess the necessity of validating NGS variants.

Methods

Validation data of 7,601 NGS variants involving 1,045 genes were collected from 5,190 clinical samples and sequenced by one of five targeted capture panels and two NGS chemistries, respectively. These genes and variants were widely distributed in 24 human chromosomes and mitochondrial genome. Variants validation was firstly processed by Sanger sequencing. If validation results were unavailable or inconsistent

SUBMITTER: Zheng J 

PROVIDER: S-EPMC6625156 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature