Parent-of-Origin Genome Analysis: The Potential To Improve Genetic Testing

7am PST| 10am EST| 3pm GMT| 4pm CET

Determining parent-of-origin (PofO) for germline variants is essential for evaluating disease risk when a pathogenic variant has PofO effects, that is, when a patient’s risk of disease depends on the parent from which it is inherited.

PofO analysis can aid in clinical genetics through advising on disease management and lifelong surveillance, as well as enabling variant curation and the efficient screening of relatives for genetic disease. 

This webinar will introduce a novel method for parent-of-origin-aware genomic analysis using the long-read capabilities of nanopore sequencing and single-cell DNA template strand sequencing to assign variants to each biological parent with 99% accuracy using only a blood research sample from the child.

Attend this webinar to learn: 

• How genomic imprinting can help infer the parent-of-origin of homologs
• How to combine imprinted DNA methylation with chromosome-length haplotypes
• The potential clinical utility of parent-of-origin-aware genomic analysis in the hereditary cancer setting