Article

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs

2024-03-21

Abstract excerpt

Whereas 16p11.2 BP4-5 copy-number variants (CNVs) represent one of the most pleiotropic etiologies of genomic syndromes in both clinical and population cohorts, the mechanisms leading to such pleiotropy remain understudied. Identifying 73 deletion and 89 duplication carriers among unrelated white British UK Biobank participants, we performed a phenome-wide association study between the region’s copy number and 117...

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Literature Corpus work: 2e6e079e-36fd-53cb-8bca-6508051f3d2a
DOI: 10.1101/2024.03.20.24304613

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