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            <r:String xml:lang="en">Uppsala University</r:String>
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        <r:String xml:lang="en">SweGen genetic variation from the Northern Sweden Population Health Study</r:String>
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          <r:URN>urn:ddi:se.researchdata:fega-sweden-egad50000001324-html.Individual-0:2.0</r:URN>
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          <r:String xml:lang="en">FEGA Sweden</r:String>
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          <r:String xml:lang="en">FEGA Sweden</r:String>
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        <r:SimpleDate>2025-04-04</r:SimpleDate>
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      <r:Content xml:lang="en">The dataset contains files with single nucleotide variants in VCF format for a total of 58 DNA samples originating from the Northern Sweden Population Health Study (NSPHS). For each of the 58 individuals, DNA was extracted from a blood sample and subject to whole genome sequencing (WGS). The WGS was performed using 2x150 bp paired-end chemistry on Illumina HiSeq X Ten instrumentation at the SciLifeLab National Genomics Infrastructure (NGI) in Stockholm and Uppsala. FASTQ files generated by WGS were analyzed using the nf-core pipeline Sarek, which includes pre-processing, alignment to the human GRCh38 reference genome, and germline variant calling. The NSPHS study was approved by the local ethics committee at the University of Uppsala (Regionala Etikprövningsnämnden, Uppsala, 2005:325 and 2016-03-09). All participants gave their written informed consent to the study including the examination of environmental and genetic causes of disease in compliance with the Declaration of Helsinki. 

This dataset is 1 of 4 included in the study titled SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population, http://identifiers.org/ega.study:EGAS50000000906.</r:Content>
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