A clinically validated whole genome pipeline for structural variant detection and analysis.

ABSTRACT:

Background

With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the benefits that are helping to define WGS as the new diagnostic standard. WGS provides unique opportunities for detection of structural variants; however, such analyses, despite being recognized by the research community, have not previously made their way into routine clinical practice.

Results

We have developed a clinically validated pipeline for highly specific and sensitive detection of structural variants basing on 30X PCR-free WGS. Using a combination of breakpoint analysis of split and discordant reads, and read depth analysis, the pipeline identifies st

SUBMITTER: Neerman N 

PROVIDER: S-EPMC6631445 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature