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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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Detalles Bibliográficos
Autores principales:	Lin, Amy, Forsyth, Jennifer K., Hoftman, Gil D., Kushan-Wells, Leila, Jalbrzikowski, Maria, Dokuru, Deepika, Coppola, Giovanni, Fiksinski, Ania, Zinkstok, Janneke, Vorstman, Jacob, Nachun, Daniel, Bearden, Carrie E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Full Length Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607166/ https://www.ncbi.nlm.nih.gov/pubmed/34841284 http://dx.doi.org/10.1016/j.bbih.2021.100386

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