Article
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.
Nature genetics - 1 Jun 2021
Beyter Doruk, Ingimundardottir Helga, Oddsson Asmundur, Eggertsson Hannes P, Bjornsson Eythor, Jonsson Hakon, Atlason Bjarni A, Kristmundsdottir Snaedis, Mehringer Svenja, Hardarson Marteinn T, Gudjonsson Sigurjon A, Magnusdottir Droplaug N, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Kristjansson Ragnar P, Sverrisson Sverrir T, Holley Guillaume, Palsson Gunnar, Stefansson Olafur A, Eyjolfsson Gudmundur, Olafsson Isleifur, Sigurdardottir Olof, Torfason Bjarni, Masson Gisli, Helgason Agnar, Thorsteinsdottir Unnur, Holm Hilma, Gudbjartsson Daniel F, Sulem Patrick, Magnusson Olafur T, Halldorsson Bjarni V, Stefansson Kari
Abstract excerpt
Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits. We...
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