Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature
This study demonstrates that nanopore sequencing enables accurate, simultaneous detection of <i>USP7</i> variants and the associated HAFOUS methylation episignature. These findings support the clinical utility of long-read sequencing as an integrated diagnostic tool for neurodevelopmental disorders, offering a unified platform for comprehensive genomic and epigenomic profiling.
Authors
- Mariëlle van Gijn (ORCID: https://orcid.org/0000-0002-1073-0539)
- Christian Patrick Schaaf (ORCID: https://orcid.org/0000-0002-2148-7490)
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0001-7126-2030)
- Silvana Briuglia (ORCID: https://orcid.org/0000-0002-5213-441X)
- Peter Henneman (ORCID: https://orcid.org/0000-0003-2179-7808)
- Liselot van der Laan (ORCID: https://orcid.org/0000-0002-7800-8665)
- Michael A. Levy (ORCID: https://orcid.org/0000-0002-4188-2527)
- Pilar Caro
- Andrea Venema
- Mariëlle Alders
- Bekim Sadikovic
- Sebastian Sailer
- Jennifer Kerkhof
- Martin A. Haagmans
Institutions
- University of Messina (IT)
- Western University (CA)
- Heidelberg University (DE)
- London Health Sciences Centre (CA)
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-01-04
- DOI
- https://doi.org/10.3389/fgene.2025.1730165
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00