P207: Development of a single sequencing platform for variant detection and methylation characterization

In aggregate, 1 in 10 people have a rare disease. Despite increasing adoption of more comprehensive genetic testing such as exome and genome sequencing, more than 50% of patients still go undiagnosed. A genetic diagnosis can aid in the assessment of prognosis, recurrence risk or treatment plans. Recent studies have shown that comprehensive methylation profiling can increase the diagnostic yield from negative genome sequencing by 10-15% and can aid in VUS resolution. Illumina’s 5-base solution (5-base) and Oxford Nanopore Technologies’ (ONT) long-read whole genome sequencing (lrWGS) are technologies which can assay genome methylation, in addition to variants identifiable with traditional sequencing methods.