Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.

Matthew JensenAnastasia TyryshkinaLucilla PizzoCorrine SmolenMaitreya DasEmily HuberArjun KrishnanSanthosh D Girirajan

Published in: Genome medicine (2021)

Our results suggest a potential mechanism for how "second-hit" variants modulate expressivity of complex disorders such as the 16p12.1 deletion through transcriptomic perturbation of gene networks important for early development. Our work further shows that family-based assessments of transcriptome data are highly relevant towards understanding the genetic mechanisms associated with complex disorders.

Keyphrases

gene expression
copy number
genome wide
dna methylation
single cell
rna seq
big data
risk assessment
genome wide identification
data analysis
transcription factor
deep learning