Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression

Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression

22q11.2 reciprocal copy number variants (CNVs) offer a powerful quasi-experimental “reverse-genetics” paradigm to elucidate how gene dosage (i.e., deletions and duplications) disrupts the transcriptome to cause further downstream effects. Clinical profiles of 22q11.2 CNV carriers indicate that disru...

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Bibliographic Details
Main Authors: Amy Lin, Jennifer K. Forsyth, Gil D. Hoftman, Leila Kushan-Wells, Maria Jalbrzikowski, Deepika Dokuru, Giovanni Coppola, Ania Fiksinski, Janneke Zinkstok, Jacob Vorstman, Daniel Nachun, Carrie E. Bearden
Format: article
Language:EN
Published: Elsevier 2021
Subjects:
22q11.2
Copy number variation
Transcriptome
Differential expression
Whole blood
Cell type composition
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Online Access:https://doaj.org/article/7bbf0d5c64de4d89987d58b825e1a27b
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https://doaj.org/article/7bbf0d5c64de4d89987d58b825e1a27b

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