| Autor: |
Beyter, Doruk, Ingimundardottir, Helga, Eggertsson, Hannes P., Bjornsson, Eythor, Kristmundsdottir, Snaedis, Mehringer, Svenja, Jonsson, Hakon, Hardarson, Marteinn T., Magnusdottir, Droplaug N., Kristjansson, Ragnar P., Gudjonsson, Sigurjon A., Sverrisson, Sverrir T., Holley, Guillaume, Eyjolfsson, Gudmundur, Olafsson, Isleifur, Sigurdardottir, Olof, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Magnusson, Olafur T., Halldorsson, Bjarni V., Stefansson, Kari |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| DOI: |
10.1101/848366 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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