Document is current
Any future updates will be listed below
-
Authors
Dutta, Prasun
Pagnamenta, Alistair T. https://orcid.org/0000-0001-7334-0602
Robert, Christelle
McGuigan, Anthony E. F.
Ross, Alison
Tobias, Edward S.
McGowan, Ruth
Ansari, Morad
Baty, David
Berg, Jonathan
Bradley, Therese
Cerqueira, Vera
Diamond, Austin https://orcid.org/0000-0002-9615-229X
Halachev, Mihail https://orcid.org/0000-0002-4594-4588
Lampe, Anne
Meynert, Alison https://orcid.org/0000-0001-5839-1751
Newman, Caitlin
Thomson, Marian
Trivedi, Urmi
Williams, Nicola
Yu, Jing
Santoyo-Lopez, Javier https://orcid.org/0000-0003-1988-5059
Miedzybrodzka, Zosia https://orcid.org/0000-0003-2890-8136
Taylor, Jenny C. https://orcid.org/0000-0003-3602-5704
Aitman, Timothy J. https://orcid.org/0000-0002-7875-4502
- License Information
-
More Information
Article History
Received: 22 December 2025
Revised: 7 April 2026
Accepted: 22 July 2026
First Online: 5 August 2026
Ethics
Competing interests: TJA is a Council Member and Trustee of the UK Academy of Medical Sciences and is co-founder and equity holder of BioCaptiva plc.
Ethics approval and consent to participate: Samples were collected from 74 individuals for the long-read sequence study within the Scottish Genomes Partnership programme: “NHS Scotland in 100,000 genomes study”. All gave informed consent for use of samples and phenotype data for research purposes, including genome sequencing, data storage and de-identified data sharing. This research study was approved by North of Scotland Research Ethics Committee (16/NS/0137) and Scotland A Research Ethics Committee (17/SS/0113); the Public Benefit and Privacy Panel (1516-0377); and NHS Scotland health board Research and Development departments.
Consent for publication: Pedigree details and details of the clinical phenotype were included for three families, all of whom gave additional consent for inclusion of their data and clinical features in this publication.
