Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.

ABSTRACT:

Introduction

The genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. The screening for chromosomal structural variations (SVs) is another important strategy to understand the genetic etiology of CHD/HTX.

Methods

We employed optical genome mapping (OGM), an innovative technique capable of capturing SVs often missed by traditional cytogenetic methods, to screen for SVs in 12 patients with complex CHD/HTX. Several patients had previously undergone chromosomal microarray analysis (CMA) or whole exome sequencing (WES), but their genetic diagnoses remained inconclusive.

Results

By integrating da

SUBMITTER: Min S 

PROVIDER: S-EPMC12715421 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature