Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
This proof-of-concept study demonstrates nanopore sequencing enables episignature detection. In addition, concurrent haplotyped genomic and epigenomic analyses leverage simultaneous detection of single nucleotide/structural variants, X-inactivation, and imprinting, consolidating a multi-step sequential process into a single diagnostic assay.
Authors
- Benjamin Huremagic (ORCID: https://orcid.org/0009-0001-5198-1318)
- Griet Van Buggenhout (ORCID: https://orcid.org/0000-0002-1584-5327)
- Jeroen Breckpot (ORCID: https://orcid.org/0000-0002-0734-5154)
- Erika L. Souche (ORCID: https://orcid.org/0000-0001-9184-445X)
- Mathilde Geysens
- Hilde Van Esch (ORCID: https://orcid.org/0000-0002-9604-5726)
- Koenraad Devriendt (ORCID: https://orcid.org/0000-0002-3651-2548)
- Joris Robert Vermeesch (ORCID: https://orcid.org/0000-0002-3071-1191)
- Hilde Peeters (ORCID: https://orcid.org/0000-0002-7295-3375)
- Kris Van Den Bogaert (ORCID: https://orcid.org/0000-0003-4525-5907)
Institutions
- Centre For Human Genetics (IN)
- Center for Human Genetics (US)
- KU Leuven (BE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1186/s13073-024-01419-z
- Citations
- 22
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 39.98
Funders
- Fonds Wetenschappelijk Onderzoek
- KU Leuven
- Vlaamse regering