2023
DOI: 10.1093/genetics/iyad179
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Copy number variations and their effect on the plasma proteome

Daniel Schmitz,
Zhiwei Li,
Valeria Lo Faro
et al.

Abstract: Structural variations, including copy number variations (CNVs), affect around 20 million bases in the human genome and are common causes of rare conditions. CNVs are rarely investigated in complex disease research because most CNVs are not targeted on the genotyping arrays or the reference panels for genetic imputation. In this study, we characterize CNVs in a Swedish cohort (N = 1,021) using short-read whole genome sequencing (WGS) and use long-read WGS for validation in a sub-cohort (N = 15), and explore the… Show more

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