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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| Auteurs principaux: | , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Elsevier
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/7bbf0d5c64de4d89987d58b825e1a27b |
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