A comprehensive catalog of genomic imprinting in the human brain | LC 25

Biography

Wouter De Coster is a postdoctoral researcher and bioinformatician at the VIB-University of Antwerp Center for Molecular Neurology, focused on identifying structural variants associated with neurodegenerative disorders, particularly tandem repeat variations in frontotemporal dementia. He has developed several tools designed to optimize the use of long-read sequencing data, including the NanoPack suite of tools, methplotlib, STRdust, and the PathSTR web app.

Abstract

Genomic imprinting, the epigenetic process where the methylation status of a gene region is determined by the parent from whom the chromosome is inherited, plays a crucial role in regulating the expression of specific genes. Notable examples include the SNRPN locus on chromosome 15q13, which is associated with Prader-Willi and Angelman syndromes. However, much of the current understanding of genomic imprinting relies on technologies that lack the resolution needed to accurately identify these events, such as harsh chemical methods and short-read sequencing. We use the increasing availability of large cohorts and nanopore sequencing technology to enhance our understanding of imprinted regions. This approach allows us to detect (hydroxy)methylation, achieve unambiguous alignment in repetitive regions, and perform long-distance phasing of reads. We are creating a comprehensive catalog of imprinted regions by analyzing genome sequencing data from the human brain of a cohort of 350 individuals, enabling us to identify these regions with unprecedented resolution.