Ontology highlight
ABSTRACT:
SUBMITTER: Cirulli ET
PROVIDER: S-EPMC3282586 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Cirulli Elizabeth T ET Heinzen Erin L EL Dietrich Fred S FS Shianna Kevin V KV Singh Abanish A Maia Jessica M JM Goedert James J JJ Goldstein David B DB
Genomics 20110722 5
We sequenced the genomes of ten unrelated individuals and identified heterozygous stop codon-gain variants in protein-coding genes: we then sequenced their transcriptomes and assessed the expression levels of the stop codon-gain alleles. An ANOVA showed statistically significant differences between their expression levels (p=4×10(-16)). This difference was almost entirely accounted for by whether the stop codon-gain variant had a second, non-protein-truncating function in or near an alternate tr ...[more]