P694: Nanopore sequencing for robust detection of DNA methylation signatures

Many neurodevelopmental disorders are caused by genomic variants that disrupt the function of genes involved in reading, writing, or removing epigenomic information (eg, DNA methylation) across the genome. Over the past decade, DNA methylation profiling using Illumina EPIC DNA methylation microarrays, combined with machine learning, has led to the development of episignatures. Episignatures are characteristic DNA methylation profiles associated with specific genes or diseases and can be used to diagnose disease as well as to clarify variants of uncertain significance (eg, missense or noncoding variants) in genes regulating the epigenome.