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SweGen :
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Ameur, AdamUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden.
(author)
SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- Article/chapterEnglish2017
Publisher, publication year, extent ...
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2017-08-23
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NATURE PUBLISHING GROUP,2017
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:kth-217026
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https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-217026URI
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https://doi.org/10.1038/ejhg.2017.130DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-148972URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:136824005URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-337314URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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QC 20171124
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Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Dahlberg, JohanUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden(Swepub:uu)johda411
(author)
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Olason, PallUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för cell- och molekylärbiologi,Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.(Swepub:uu)palol405
(author)
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Vezzi, FrancescoStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),National Genomics Infrastructure, Science for Life Laboratory, Sweden,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)fvezz
(author)
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Karlsson, RobertKarolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
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Martin, MarcelStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)marcm
(author)
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Viklund, Johan,1982-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Beräkningsbiologi och bioinformatik,Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.(Swepub:uu)johvi192
(author)
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Kähäri, AndreasUppsala universitet,Science for Life Laboratory, SciLifeLab,Beräkningsbiologi och bioinformatik,Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.(Swepub:uu)andkaha
(author)
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Lundin, PärStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)prlu0183
(author)
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Che, HuiwenUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi
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Thutkawkorapin, JessadaKarolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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Eisfeldt, JesperKarolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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Lampa, SamuelUppsala universitet,Institutionen för farmaceutisk biovetenskap,Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden(Swepub:uu)samla868
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Dahlberg, MatsStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)matsd
(author)
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Hagberg, JonasStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)jhagb
(author)
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Jareborg, NiclasStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, Stockholm, Sweden.(Swepub:su)nija2313
(author)
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Liljedahl, UlrikaUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden(Swepub:uu)ullil257
(author)
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Jonasson, IngerUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden.(Swepub:uu)ingejona
(author)
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Johansson, ÅsaUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)asjoh108
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Feuk, LarsUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)larsfeuk
(author)
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Lundeberg, JoakimKTH,Genteknologi,Science for Life Laboratory, SciLifeLab,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden.;Royal Inst Technol, Div Gene Technol, Sch Biotechnol, Sci Life Lab, Stockholm, Sweden.(Swepub:kth)u1qkn9kw
(author)
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Syvänen, Ann-Christine,1950-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden(Swepub:uu)anncsyva
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Lundin, SverkerRoyal Inst Technol, Div Gene Technol, Sch Biotechnol, Sci Life Lab, Stockholm, Sweden.(Swepub:kth)u1vo8fv6
(author)
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Nilsson, DanielKarolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
(author)
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Nystedt, Björn,1978-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution,Natl Bioinformat Infrastruct, Sci Life Lab, Stockholm, Sweden.(Swepub:uu)bjsal623
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Magnusson, Patrik K. E.Karolinska Institutet,Natl Genom Infrastruct, Sci Life Lab, Stockholm, Sweden.;Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
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Gyllensten, Ulf B.Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)ulfgyll
(author)
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Uppsala universitetScience for Life Laboratory, SciLifeLab
(creator_code:org_t)
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In:European Journal of Human Genetics: NATURE PUBLISHING GROUP25:11, s. 1253-12601018-48131476-5438
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- By the author/editor
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Ameur, Adam
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Dahlberg, Johan
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Olason, Pall
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Vezzi, Francesco
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Karlsson, Robert
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Martin, Marcel
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Viklund, Johan, ...
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Kähäri, Andreas
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Lundin, Pär
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Che, Huiwen
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Thutkawkorapin, ...
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Eisfeldt, Jesper
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Lampa, Samuel
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Dahlberg, Mats
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Hagberg, Jonas
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Jareborg, Niclas
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Liljedahl, Ulrik ...
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Jonasson, Inger
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Johansson, Åsa
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Feuk, Lars
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Lundeberg, Joaki ...
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Syvänen, Ann-Chr ...
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Lundin, Sverker
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Nilsson, Daniel
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Nystedt, Björn, ...
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Magnusson, Patri ...
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Gyllensten, Ulf ...
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Royal Institute of Technology
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Stockholm University
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Karolinska Institutet
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