Enhanced hereditary cancer screening through scalable parent-of-origin-aware genomic analysis

Until recently, determining the parent-of-origin (PofO) of autosomal variants without parental samples or external data has posed a major challenge in both research and clinical genetics.

In this talk from ASHG 2025, Kasmintan Shrader discusses how her team at BC Cancer developed Parent-of-Origin-Aware genomic analysis (POAga), a technique that enables PofO assignment using only a single sample, by integrating chromosome-scale haplotyping with DNA methylation profiling at imprinted loci. This enabled them to assign variants to each biological parent with 98% accuracy using only a blood sample from the child.