Ontology highlight
ABSTRACT:
SUBMITTER: Castel SE
PROVIDER: S-EPMC6119105 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Castel Stephane E SE Cervera Alejandra A Mohammadi Pejman P Aguet François F Reverter Ferran F Wolman Aaron A Guigo Roderic R Iossifov Ivan I Vasileva Ana A Lappalainen Tuuli T
Nature genetics 20180820 9
Coding variants represent many of the strongest associations between genotype and phenotype; however, they exhibit inter-individual differences in effect, termed 'variable penetrance'. Here, we study how cis-regulatory variation modifies the penetrance of coding variants. Using functional genomic and genetic data from the Genotype-Tissue Expression Project (GTEx), we observed that in the general population, purifying selection has depleted haplotype combinations predicted to increase pathogenic ...[more]