Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram
Our study shows that the VAE provides a valuable tool for advancing our understanding of cardiac function and its genetic underpinnings, outperforming traditional approaches in genetic and phenotypic discovery.
Authors
- Prisca K. Thami (ORCID: https://orcid.org/0000-0002-4550-2560)
- Konstantinos Patlatzoglou (ORCID: https://orcid.org/0000-0002-5888-8490)
- Libor Pastika (ORCID: https://orcid.org/0000-0001-6892-6553)
- Sean L. Zheng (ORCID: https://orcid.org/0000-0002-5762-6392)
- Pantazis Theotokis (ORCID: https://orcid.org/0000-0001-8718-230X)
- Rachel Buchan (ORCID: https://orcid.org/0000-0003-2490-9289)
- Bart Loeys (ORCID: https://orcid.org/0000-0003-3703-9518)
- Ewa Sieliwończyk (ORCID: https://orcid.org/0000-0002-8603-7044)
- Daniel B. Kramer (ORCID: https://orcid.org/0000-0003-4241-3586)
- Nicholas S. Peters (ORCID: https://orcid.org/0000-0002-1014-7052)
- Arunashis Sau (ORCID: https://orcid.org/0000-0002-0204-7078)
- George D. Powell
- Lara Curran (ORCID: https://orcid.org/0000-0003-1260-3741)
- Fu Siong Ng (ORCID: https://orcid.org/0000-0002-8681-4368)
- Jonathan W. Waks (ORCID: https://orcid.org/0000-0001-5560-5638)
- Kathryn A. McGurk (ORCID: https://orcid.org/0000-0002-5445-6906)
- Massimo Mangino
- James S Ware
Institutions
- Beth Israel Deaconess Medical Center (US)
- Harvard University (US)
- University of Antwerp (BE)
- Imperial College Healthcare NHS Trust (GB)
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Chelsea and Westminster Hospital NHS Foundation Trust (GB)
- Royal Brompton & Harefield NHS Foundation Trust (GB)
- Harefield Hospital (GB)
- Lung Institute (US)
- Antwerp University Hospital (BE)
- MRC London Institute of Medical Sciences (GB)
- Imperial College London (GB)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1186/s13073-025-01510-z
- Citations
- 1
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 1.39
Funders
- British Heart Foundation
- Medical Research Council