Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

ABSTRACT:

Background

Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated.

Methods

Here, the performance of WGS in NA12878, the YH cell line, and the Chinese trios were measured by assessing their sensitivity, PPV, depth and breadth of coverage using MGISEQ-2000. We also compared the performance of WES and WGS using NA12878. The sensitivity and PPV were tested using the family-based trio design for the Chinese trios. We further developed a systematic WGS pipeline for the analysis of 8 clinical cases.

Results

In general, the sensitivity and PPV for SNV/inde

SUBMITTER: Sun Y 

PROVIDER: S-EPMC8045368 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature