Integrated omics analyses clarifies ATRX copy number variant of uncertain significance

We describe an affected male with a de novo hemizygous intragenic duplication of ~43.6  kb inATRX, detected by research genome sequencing following non-diagnostic clinical testing. RNA sequencing and DNA methylation episignature analyses were central in variant interpretation, and this duplication was subsequently interpreted as disease-causing. This represents the smallest reported tandem duplication withinATRX associated with disease. This case demonstrates the diagnostic utility of integrating multiple omics technologies, which can ultimately lead to a definitive diagnosis for rare disease patients.
Source: Journal of Human Genetics - Category: Genetics & Stem Cells Source Type: research