Article

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

2022-04-25

Abstract excerpt

Copy number variations (CNVs) are rare genomic deletions and duplications that can exert profound effects on brain and behavior. Previous reports of pleiotropy in CNVs imply that they converge on shared mechanisms at some level of pathway cascades, from genes to large-scale neural circuits to the phenome. However, studies to date have primarily examined single CNV loci in small clinical cohorts. It remains unknown...

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Literature Corpus work: cdc8be09-baeb-5950-b632-bf7692372c33
DOI: 10.1101/2022.04.23.489093

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