Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Doruk Beyter, Helga Ingimundardóttir, Ásmundur Oddsson, Hannes P. Eggertsson, Eyþór Björnsson, Hákon Jónsson, Bjarni A. Atlason, Snædís Kristmundsdóttir, Svenja Mehringer, Marteinn Thor Hardarson, Sigurjon Axel Gudjonsson, Droplaug N. Magnúsdóttir, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Ragnar P. Kristjansson, , Kāri Stefánsson
The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.
Nature Genetics · May 10, 2021Peer-reviewedGenetics