TY  -  
T1  - Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk 
SN  -  /  
UR  - http://hdl.handle.net/10138/305534 
T3  -  
A1  - Castel, Stephane E.; Cervera, Alejandra; Mohammadi, Pejman; Aguet, Francois; Reverter, Ferran; Wolman, Aaron; Guigo, Roderic; Iossifov, Ivan; Vasileva, Ana; Lappalainen, Tuuli 
A2  -  
PB  -  
Y1  - 2018 
LA  - eng 
AB  - Coding variants represent many of the strongest associations between genotype and phenotype; however, they exhibit interindividual 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 c... 
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OP  -  
KW  - AUTISM SPECTRUM DISORDER; HOGG-DUBE-SYNDROME; GENOTYPE IMPUTATION; GENETIC-VARIATION; EXPRESSION; MUTATION; IDENTIFICATION; PHENOTYPE; FRAMEWORK; SEVERITY; 1184 Genetics, developmental biology, physiology; 3111 Biomedicine 
N1  -   
PP  -  
ER  -