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Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease


Date: 20th November 2019 | Source: BioRxiv

Authors: Doruk Beyter, Helga Ingimundardottir, Hannes Eggertsson, Eythor Bjornsson, Snaedis Kristmundsdottir, Svenja Mehringer, Hakon Jonsson, Marteinn T Hardarson, Droplaug N Magnusdottir, Ragnar P Kristjansson, Sigurjon A Gudjonsson, Sverrir T Sverrisson, Guillaume Holley, Gudmundur Eyjolfsson, Isleifur Olafsson, Olof Sigurdardottir, Gisli Masson, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, Patrick Sulem, Olafur T Magnusson, Bjarni V Halldorsson, Kari Stefansson.

Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity.

We generated LRS data on 1,817 Icelanders using Oxford Nanopore Technologies, and identified a median of 23,111 autosomal structural variants per individual (a median of 11,506 insertions and 11,576 deletions), spanning cumulatively a median of 9.9 Mb. We found that rare SVs are larger in size than common ones and are more likely to impact protein function. We discovered an association with a rare deletion of the first exon of PCSK9. Carriers of this deletion have 0.93 mmol/L (1.36 sd) lower LDL cholesterol levels than the population average (p-value = 2.4·10−22).

We show that SVs can be accurately characterized at population scale using long read sequence data in a genomewide non-targeted fashion and how these variants impact disease.

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