Overview

• Researchers applied HiFi long-read sequencing to over 200 placental samples, uncovering a tenfold increase in genomic imprinting events compared to previous data.
• The study revealed that 95% of methylation patterns in chorionic villi were maternal, with distinct paternal contributions at specific loci.
• Four new candidate loci were identified as potential risk factors for rare pediatric diseases, paving the way for clinical association studies.
• This technological breakthrough overcomes previous limitations in resolving parental haplotypes and analyzing non-blood-based samples.
• The findings, presented at the Pediatric Academic Societies Meeting, open new pathways for diagnosing and treating imprinting-related disorders in children.