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

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

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

Rausell, Antonio; Mohammadi, Pejman; McLaren, Paul J; Bartha, Istvan; Xenarios, Ioannis; Fellay, Jacques; Telenti, Amalio

Analysis of stop-gain and frameshift variants in human innate immunity genes Journal Article

In: PLoS Computational Biology, 10 (7), pp. e1003757, 2014.

Links | BibTeX | Tags: gene expression, genome, loss-of-function, nonsense-mediated decay, OMIM