Common Diseases in Clinical Cohorts — Not Always What They Seem
Our study shows the value of systematic genome sequencing in understanding the phenotypic heterogeneity of common diseases and identifying failure to diagnose rare diseases and highlights the benefits of deep molecular phenotyping in clinical trials and patient care. (Funded by AbbVie and NIHR Cambridge Biomedical Research Centre.).
Authors
- Naim Al Mahi (ORCID: https://orcid.org/0000-0003-4660-5809)
- Ali Abbasi (ORCID: https://orcid.org/0000-0002-6452-4765)
- Benjamin M. Jacobs (ORCID: https://orcid.org/0000-0002-6023-6010)
- Ammar J. Alsheikh (ORCID: https://orcid.org/0000-0001-7125-0144)
- Mark Reppell (ORCID: https://orcid.org/0000-0001-7992-4537)
- Valerie Pivorunas (ORCID: https://orcid.org/0000-0001-6647-8494)
- Andrew Blumenfeld (ORCID: https://orcid.org/0000-0003-0851-4914)
- Fedik Rahimov (ORCID: https://orcid.org/0000-0001-6519-7404)
- Heath Guay (ORCID: https://orcid.org/0000-0002-6754-9589)
- Howard J. Jacob (ORCID: https://orcid.org/0000-0002-1521-3055)
- Stephen Sawcer (ORCID: https://orcid.org/0000-0001-7685-0974)
- Jeffrey F. Waring (ORCID: https://orcid.org/0000-0002-7769-0367)
- John S. Lee (ORCID: https://orcid.org/0000-0001-7605-1814)
- Nizar Smaoui
- Haukur J. Sigurðsson
Institutions
- Queen Mary University of London (GB)
- University of Cambridge (GB)
- AbbVie (United States) (US)
- GeneFluidics (United States) (US)
Publication Details
- Journal
- New England Journal of Medicine
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1056/nejmoa2405459
- Citations
- 7
- Primary Topic
- Diabetes and associated disorders
- Type
- article
- Field-Weighted Citation Impact
- 12.72