Article
Transcriptomic signatures across human tissues identify functional rare genetic variation.
Science (New York, N.Y.) - 11 Sept 2020
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, Greenwald Emily, Hess Gaelen T, Hilliard Austin T, Kember Rachel L, Kotis Bence, Park YoSon, Peloso Gina, Ramdas Shweta, Scott Alexandra J, Smail Craig, Tsang Emily K, Zekavat Seyedeh M, Ziosi Marcello, Aradhana, Ardlie Kristin G, Assimes Themistocles L, Bassik Michael C, Brown Christopher D, Correa Adolfo, Hall Ira, Im Hae Kyung, Li Xin, Natarajan Pradeep, Lappalainen Tuuli, Mohammadi Pejman, Montgomery Stephen B, Battle Alexis
Abstract excerpt
Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcriptome abnormalities by analyzing gene expression, allele-specific expression, and alternative splicing from...
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