Mobile element insertion detection in 89,874 clinical exomes.

ABSTRACT:

Purpose

Exome sequencing (ES) is increasingly used for the diagnosis of rare genetic disease. However, some pathogenic sequence variants within the exome go undetected due to the technical difficulty of identifying them. Mobile element insertions (MEIs) are a known cause of genetic disease in humans but have been historically difficult to detect via ES and similar targeted sequencing methods.

Methods

We developed and applied a novel MEI detection method prospectively to samples received for clinical ES beginning in November 2017. Positive MEI findings were confirmed by an orthogonal method and reported back to the ordering provider. In this study, we examined 89,874 samples from 38,871 cases.

Results

Diagnostic MEIs were present in 0.03% (95% binomial test confidence

SUBMITTER: Torene RI 

PROVIDER: S-EPMC7200591 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature