Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.

ABSTRACT:

Purpose

Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols and a limited number of clinical samples with pathogenic SVs, comprehensive standards for SV detection, interpretation, and reporting are to be established.

Methods

We performed SV assessment on 60,000 clinical samples tested with hereditary cancer NGS panels spanning 48 genes. To evaluate NGS results, NGS and orthogonal methods were used separately in a blinded fashion for SV detection in all samples.

Results

A total of 1,037 SVs in coding sequence (CDS) or untranslated regions (UTRs) and 30,847 SVs in introns

SUBMITTER: Mu W 

PROVIDER: S-EPMC6752280 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature