| Literature DB >> 33972781 |
Doruk Beyter1, Helga Ingimundardottir1, Asmundur Oddsson1, Hannes P Eggertsson1,2, Eythor Bjornsson1,3,4, Hakon Jonsson1, Bjarni A Atlason1, Snaedis Kristmundsdottir1,5, Svenja Mehringer6, Marteinn T Hardarson1, Sigurjon A Gudjonsson1, Droplaug N Magnusdottir1, Aslaug Jonasdottir1, Adalbjorg Jonasdottir1, Ragnar P Kristjansson1, Sverrir T Sverrisson1, Guillaume Holley1, Gunnar Palsson1, Olafur A Stefansson1, Gudmundur Eyjolfsson7, Isleifur Olafsson8, Olof Sigurdardottir9, Bjarni Torfason10,11, Gisli Masson1, Agnar Helgason1,12, Unnur Thorsteinsdottir1,3, Hilma Holm1, Daniel F Gudbjartsson1,2, Patrick Sulem1, Olafur T Magnusson1, Bjarni V Halldorsson13,14, Kari Stefansson15,16.
Abstract
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 discovered an association of a rare deletion in PCSK9 with lower low-density lipoprotein (LDL) cholesterol levels, compared to the population average. We also discovered an association of a multiallelic SV in ACAN with height; we found 11 alleles that differed in the number of a 57-bp-motif repeat and observed a linear relationship between the number of repeats carried and height. These results show that SVs can be accurately characterized at the population scale using LRS data in a genome-wide non-targeted approach and demonstrate how SVs impact phenotypes.Entities:
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Year: 2021 PMID： 33972781 DOI： 10.1038/s41588-021-00865-4
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330