Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.

ABSTRACT:

Background

Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown.

Methods

We applied a combination of systematic experimental and bioinformatic methods to improve the molecular diagnosis of 39 patients with multiple congenital abnormalities and/or intellectual disability harboring apparent de novo SVs, most with an inconclusive diagnosis after regular genetic testing.

Results

In 7 of these cases (18%), whole-genome sequencing analysis revealed disease-relevant complexities of the SVs missed in routine microarray-based analyses. We developed a computational tool to predict the effects on genes directly affected by SVs and on gene

SUBMITTER: Middelkamp S 

PROVIDER: S-EPMC6894143 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature