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

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

GTEx Consortium,

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

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

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

GTEx Consortium,

Genetic effects on gene expression across human tissues Journal Article

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

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

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

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