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

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

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

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