All too often, genomic testing in patients with undiagnosed disorders results in the finding of variants of unknown significance (VUS). This leaves the health-care provider and patient in a quandary, not knowing whether that variant is disease causing or not. On this month’s GenePod, Bekim Sadikovic, PhD, director of the Clinical Genomic Center and head of the molecular diagnostics program at Canada’s Western University, discusses the implementation of genomic DNA methylation testing in patients with rare disorders – a diagnostic tool that may help sort out the impact of VUS by identifying the signals of DNA methylation.

Related Article Title: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
https://www.nature.com/articles/s41436-020-01096-4

Genepod - The implementation of clinical genomic DNA methylation testing...

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