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Open access Aug 2026

Determinants of functional burden pleiotropy and gene dosage responses across human traits

Pleiotropic and monotonic effects of gene dosage are central to understanding comorbidities in developmental pediatric and psychiatric disorders, yet the underlying biological processes are not well characterized. Here we develop a functional burden analysis to investigate the association of all protein-coding copy-num...

Sayeh Kazem, Kuldeep Kumar, J. Yang et al. · 0 citations
Open access Sep 2026

Contribution of copy number variants to schizophrenia in East Asian populations

A significantly elevated genome-wide rare CNV burden in EAS cases compared with controls is observed, underscoring the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.

Yu Chen, Qi-Di Feng, Max Lam et al. · 0 citations

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