Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
This study highlights the importance of TAD boundaries and chromatin interactions in determining the functional impact of copy number variants and provides proof-of-concept for using 4C/HiC-seq as a clinical tool to acquire crucial information for genetic counseling and to support clinical decision-making in cases of suspected TADopathies.
Authors
- James R. Lupski (ORCID: https://orcid.org/0000-0001-9907-9246)
- Anna Maria Nardone
- Fábio R. Faucz (ORCID: https://orcid.org/0000-0001-7959-9842)
- Andrea Lania (ORCID: https://orcid.org/0000-0002-5380-2141)
- Mario Bengala
- Brynn Levy (ORCID: https://orcid.org/0000-0002-4213-3480)
- Erica Spiegel
- Leslie Dunnington
- David Rodriguez‐Buritica (ORCID: https://orcid.org/0000-0003-1836-9853)
- Paola Fortugno (ORCID: https://orcid.org/0000-0002-0151-6477)
- Constantine A. Stratakis (ORCID: https://orcid.org/0000-0002-4058-5520)
- Francesco Brancati (ORCID: https://orcid.org/0000-0003-3624-2354)
- Patrick Pétrossians (ORCID: https://orcid.org/0000-0003-0271-136X)
- Helen Gould
- Giovanna Mantovani (ORCID: https://orcid.org/0000-0002-9065-3886)
- Hadia Hijazi (ORCID: https://orcid.org/0000-0002-2206-8730)
- Albert Beckers (ORCID: https://orcid.org/0000-0001-6351-1367)
- Giampaolo Trivellin (ORCID: https://orcid.org/0000-0003-2384-4153)
- Giulia Del Sindaco (ORCID: https://orcid.org/0000-0002-9050-0150)
- Salvatore Cannavò
- Jean‐Hubert Caberg (ORCID: https://orcid.org/0000-0003-4083-3907)
- Martin Franke (ORCID: https://orcid.org/0000-0002-4626-3290)
- Adrian Daly (ORCID: https://orcid.org/0000-0001-6130-2975)
- Vandana M Rawal
- Marta Ragonese
Institutions
- University of Messina (IT)
- Memorial Hermann (US)
- Humanitas University (IT)
- Vita-Salute San Raffaele University (IT)
- University of Liège (BE)
- Baylor College of Medicine (US)
- University of Milan (IT)
- University of L'Aquila (IT)
- Columbia University Irving Medical Center (US)
- Society for Maternal-Fetal Medicine (US)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- San Raffaele University of Rome (IT)
- Austin Diagnostic Clinic (US)
- Centro Andaluz de Biología del Desarrollo (ES)
- Higher Ecclesiastical Academy of Athens (GR)
- Centre Hospitalier Universitaire de Liège (BE)
- Policlinico Tor Vergata (IT)
- Memorial Hermann–Texas Medical Center (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- Texas Children's Hospital (US)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- The University of Texas Health Science Center (US)
- IRCCS Humanitas Research Hospital (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- Foundation for Research and Technology Hellas (GR)
- Junta de Andalucía (ES)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1186/s13073-024-01378-5
- Citations
- 9
- Primary Topic
- Genomics and Chromatin Dynamics
- Type
- article
- Field-Weighted Citation Impact
- 2.10
Funders
- Texas Children's Hospital
- “la Caixa” Foundation
- Università degli Studi di Milano
- Society for Endocrinology
- Fondazione Telethon
- Ministero della Salute
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Université de Liège
- Università degli Studi di Messina
- Humanitas University
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
- Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona
- Humanitas Research Hospital
- National Institutes of Health
- Irving Medical Center, Columbia University
- Foundation for Research and Technology-Hellas
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development