Evident Genomics technology provides assignment of genetic variants to the parent from which they are inherited

Parent-of-origin sequencing (POAga) is a cutting-edge technique that accurately predicts which parent a genetic variant is inherited from. This technology utilizes long-read DNA methylation sequencing and Strand-seq to provide phased genomes and pinpoint the parental origin of autosomal haplotypes. POAga is particularly beneficial in the context of hereditary cancer, where identifying the parental origin of a pathogenic variant can significantly enhance cascade genetic testing within families. By accurately determining which side of the family carries the variant, POAga allows for targeted testing, reducing unnecessary screenings for relatives who are not at risk. This leads to more efficient resource allocation within healthcare systems and minimizes the burden on families. Moreover, POAga offers valuable insights into inheritance patterns, especially in cases where obtaining parental genetic information is challenging. POAga has demonstrated high accuracy in predicting parental origin, with a 98.7% concordance rate with known clinical molecular segregation. This technology has the potential to improve not only hereditary cancer care but the management of many genetic diseases by enabling precise risk assessments, streamlined cascade testing, and personalized prevention strategies.

Reference – Akbari V, Hanlon VCT, O’Neill K, et al. Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq. Cell Genom. 2022;3(1):100233. Published 2022 Dec 21. doi:10.1016/j.xgen.2022.100233