Publications

Selected Publications

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Ferraro, Nicole M; Strober, Benjamin J; Einson, Jonah; Abell, Nathan S; Aguet, Francois; Barbeira, Alvaro N; Brandt, Margot; Bucan, Maja; Castel, Stephane E; Davis, Joe R; others,

Transcriptomic signatures across human tissues identify functional rare genetic variation Journal Article

In: Science, 369 (6509), 2020.

Links | BibTeX | Tags: allele-specific expression, allelic expression, alternative splicing, gene expression, genome, GTEx, precision genomics, rare genetic variants, structural variants, transcriptome, Watershed

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

Consortium, GTEx

The GTEx Consortium atlas of genetic regulatory effects across human tissues Journal Article

In: Science, 369 (6509), pp. 1318–1330, 2020.

Links | BibTeX | Tags: gene expression, GTEx, human tissues, pleiotropy, regulatory mechanisms, RNA, splicing, transcriptome

Oliva, Meritxell; Muñoz-Aguirre, Manuel; Kim-Hellmuth, Sarah; Wucher, Valentin; Gewirtz, Ariel DH; Cotter, Daniel J; Parsana, Princy; Kasela, Silva; Balliu, Brunilda; Viñuela, Ana; others,

The impact of sex on gene expression across human tissues Journal Article

In: Science, 369 (6509), 2020.

Links | BibTeX | Tags: GTEx, sex-specific, transcriptome

Mohammadi, Pejman; Castel, Stephane E; Cummings, Beryl B; Einson, Jonah; Sousa, Christina; Hoffman, Paul; Donkervoort, Sandra; Jiang, Zhuoxun; Mohassel, Payam; Foley, Reghan A; others,

Genetic regulatory variation in populations informs transcriptome analysis in rare disease Journal Article

In: Science, 366 (6463), pp. 351–356, 2019.

Links | BibTeX | Tags: allelic expression, ANEVA, ANEVA-DOT, genetic variation, GTEx, Mendelian, noncoding regions, rare genetic variants, RNA-sequencing, tissue-specific

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

Consortium, GTEx

Genetic effects on gene expression across human tissues Journal Article

In: Nature, 550 (7675), pp. 204–213, 2017.

Links | BibTeX | Tags: disease, gene expression, GTEx, molecular function, tissue specificity

Mohammadi, Pejman; Castel, Stephane E; Brown, Andrew A; Lappalainen, Tuuli

Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change Journal Article

In: Genome Research, 27 (11), pp. 1872–1884, 2017.

Links | BibTeX | Tags: aFC, allelic expression, cis-eQTLs, cis-regulation, gene expression, GTEx