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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

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

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

Bartha, István; Rausell, Antonio; McLaren, Paul J; Mohammadi, Pejman; Tardaguila, Manuel; Chaturvedi, Nimisha; Fellay, Jacques; Telenti, Amalio

The characteristics of heterozygous protein truncating variants in the human genome Journal Article

PLoS Computational Biology, 11 (12), pp. e1004647, 2015.

Links | BibTeX | Tags: frameshift variants, phenotype, truncating variants