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

Internet

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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