Common Diseases in Clinical Cohorts — Not Always What They Seem

20257 citationsJournal Article

Authors

Fedik Rahimov · AbbVie (United States)

Benjamin M. Jacobs · Queen Mary University of London

John S. Lee · AbbVie (United States)

Naim Al Mahi · AbbVie (United States)

Andrew Blumenfeld · AbbVie (United States)

Ammar J. Alsheikh · AbbVie (United States)

Ali Abbasi ·

Abstract

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.).

Topics & Keywords

Diabetes and associated disorders Immunodeficiency and Autoimmune Disorders Genomics and Rare Diseases

Publication Details

Published in: New England Journal of Medicine

Volume 393, Issue 16, pp. 1589-1598

DOI: 10.1056/nejmoa2405459

Field-Weighted Citation Impact: 13.79

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Common Diseases in Clinical Cohorts — Not Always What They Seem

Authors

Abstract

Topics & Keywords

Publication Details