Rare copy-number variants as modulators of common disease susceptibility

Rare copy-number variants as modulators of common disease susceptibility

Abstract Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described. Methods Assessing four modes of CNV action, we performed genome-wide association scan...

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Bibliographic Details
Main Authors: Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Estonian Biobank Research Team, Alexandre Reymond, Zoltán Kutalik
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Genome Medicine
Subjects:
Structural variation
CNV
GWAS
Time-to-event analysis
Common diseases
Pleiotropy
Online Access:https://doi.org/10.1186/s13073-023-01265-5

Internet

https://doi.org/10.1186/s13073-023-01265-5

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