Article
Transcriptome variation in human tissues revealed by long-read sequencing.
Nature - 1 Aug 2022
Glinos Dafni A, Garborcauskas Garrett, Hoffman Paul, Ehsan Nava, Jiang Lihua, Gokden Alper, Dai Xiaoguang, Aguet François, Brown Kathleen L, Garimella Kiran, Bowers Tera, Costello Maura, Ardlie Kristin, Jian Ruiqi, Tucker Nathan R, Ellinor Patrick T, Harrington Eoghan D, Tang Hua, Snyder Michael, Juul Sissel, Mohammadi Pejman, MacArthur Daniel G, Lappalainen Tuuli, Cummings Beryl B
Abstract excerpt
Regulation of transcript structure generates transcript diversity and plays an important role in human disease1-7. The advent of long-read sequencing technologies offers the opportunity to study the role of genetic variation in transcript structure8-16. In this Article, we present a large human long-read RNA-seq dataset using the Oxford Nanopore Technologies platform from 88 samples from Genotype-Tissue...
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