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Inside the Lab Genetics and epigenetics, Digital and computational pathology, Omics

The Diagnostic Power of DNA Methylation

At a Glance

  • DNA methylation can be an important diagnostic indicator of genetic disease
  • When combined with machine learning, methylation analysis becomes a powerful tool that grows more accurate and effective over time
  • Methylation analysis can help determine whether variants of unknown significance are pathogenic
  • Creating open databases will help facilitate the continued growth of epigenetics

When my career started, constitutional genetics and epigenetics were limited to very specific purposes, such as imprinting disorders or specific methylation assays. About 10 to 15 years ago, this targeted approach began to give way to genome-wide methods using micro-arrays and similar technologies. Baylor College of Medicine, where I had my clinical fellowship, was one of the hubs at the forefront of introducing these technologies, and now they’ve carried out over 100,000 pediatric microarrays. In the process, they have discovered new clinical associations for dozens of new microdeletion and microduplication syndromes. The work set a precedent – and it got me to start thinking about methylation technologies as something that I could exploit in a similar way.

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  1. E Aref-Eshghi et al., “Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes”, Am J Hum Genet, 102, 156–174 (2018). PMID: 29304373.
  2. O Griffith, H Rehm, “Variant database collaborations – for cancer and beyond”, The Pathologist, 40, 40–43 (2018). Available at: bit.ly/2umjGXd.

About the Author

Bekim Sadikovic

Bekim Sadikovic is Head of Molecular Genetics at London Health Sciences Centre (LHSC), and Associate Professor at Western University, London, Canada.

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