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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
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Acceso en línea:https://doaj.org/article/7bbf0d5c64de4d89987d58b825e1a27b
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