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A whole-genome sequ...
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences
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- Svensson, Daniel (författare)
- Umeå universitet,Kemiska institutionen,Arcum,Umeå Univ, Dept Chem, Computat Life Sci Cluster, Umeå, Sweden
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- Rentoft, Matilda (författare)
- Umeå universitet,Institutionen för medicinsk kemi och biofysik,Umeå Univ, Dept Med Biochem & Biophys, Umeå, Sweden
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- Dahlin, Anna M., 1979- (författare)
- Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden
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- Lundholm, Emma, 1975- (författare)
- Umeå universitet,Enheten för demografi och åldrandeforskning (CEDAR),Arcum,Umeå Univ, Ctr Demog & Ageing, Umeå, Sweden
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- Ólason, Páll I. (författare)
- Uppsala universitet,Molekylär evolution,Science for Life Laboratory, SciLifeLab
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- Sjödin, Andreas, 1976- (författare)
- Umeå universitet,Kemiska institutionen,Division of CBRN Security and Defence, FOI–Swedish Defence Research Agency, Umeå, Sweden,Umeå Univ, Dept Chem, Computat Life Sci Cluster, Umeå, Sweden; FOI Swedish Def Res Agcy, Div CBRN Secur & Def, Umeå, Sweden
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- Nylander, Carin (författare)
- Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden
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- Melin, Beatrice S. (författare)
- Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci, Oncol, Umeå, Sweden
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- Trygg, Johan (författare)
- Umeå universitet,Kemiska institutionen,Umeå Univ, Dept Chem, Computat Life Sci Cluster, Umeå, Sweden
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- Johansson, Erik (författare)
- Umeå universitet,Institutionen för medicinsk kemi och biofysik,Umeå Univ, Dept Med Biochem & Biophys, Umeå, Sweden
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(creator_code:org_t)
- 2020-09-11
- 2020
- Engelska.
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Ingår i: PLOS ONE. - : Public Library Science. - 1932-6203. ; 15:9
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https://doi.org/10.1...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- The number of national reference populations that are whole-genome sequenced are rapidly increasing. Partly driving this development is the fact that genetic disease studies benefit from knowing the genetic variation typical for the geographical area of interest. A whole-genome sequenced Swedish national reference population (n = 1000) has been recently published but with few samples from northern Sweden. In the present study we have whole-genome sequenced a control population (n = 300) (ACpop) from Västerbotten County, a sparsely populated region in northern Sweden previously shown to be genetically different from southern Sweden. The aggregated variant frequencies within ACpop are publicly available (DOI 10.17044/NBIS/G000005) to function as a basic resource in clinical genetics and for genetic studies. Our analysis of ACpop, representing approximately 0.11% of the population in Västerbotten, indicates the presence of a genetic substructure within the county. Furthermore, a demographic analysis showed that the population from which samples were drawn was to a large extent geographically stationary, a finding that was corroborated in the genetic analysis down to the level of municipalities. Including ACpop in the reference population when imputing unknown variants in a Västerbotten cohort resulted in a strong increase in the number of high-confidence imputed variants (up to 81% for variants with minor allele frequency < 5%). ACpop was initially designed for cancer disease studies, but the genetic structure within the cohort will be of general interest for all genetic disease studies in northern Sweden.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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Svensson, Daniel
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Rentoft, Matilda
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Dahlin, Anna M., ...
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Lundholm, Emma, ...
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Ólason, Páll I.
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Sjödin, Andreas, ...
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Nylander, Carin
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Melin, Beatrice ...
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Trygg, Johan
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Johansson, Erik
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