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Castel, Stephane E; Aguet, François; Mohammadi, Pejman; Ardlie, Kristin G; Lappalainen, Tuuli

A vast resource of allelic expression data spanning human tissues Journal Article

In: Genome Biology, 21 (1), pp. 1–12, 2020.

Links | BibTeX | Tags: allelic expression, cis-regulatory effects, GTEx, haplotype, phASER, SNP

Castel, Stephane E; Cervera, Alejandra; Mohammadi, Pejman; Aguet, François; Reverter, Ferran; Wolman, Aaron; Guigo, Roderic; Iossifov, Ivan; Vasileva, Ana; Lappalainen, Tuuli

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk Journal Article

In: Nature Genetics, 50 (9), pp. 1327–1334, 2018.

Links | BibTeX | Tags: autism, cancer, cis-regulatory variation, coding variants, genotype, GTEx, haplotype, penetrance, phenotype, SNP