{"entity": "publication", "iuid": "946798060ff74dd29d4437469e57b3d1", "timestamp": "2026-03-16T18:40:24.297Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/946798060ff74dd29d4437469e57b3d1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/946798060ff74dd29d4437469e57b3d1"}}, "title": "A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.", "authors": [{"family": "Svensson", "given": "Daniel", "initials": "D", "orcid": "0000-0002-4476-9255", "researcher": {"href": "https://publications.scilifelab.se/researcher/75bc51f60237478abec1fb2969abc873.json"}}, {"family": "Rentoft", "given": "Matilda", "initials": "M"}, {"family": "Dahlin", "given": "Anna M", "initials": "AM"}, {"family": "Lundholm", "given": "Emma", "initials": "E"}, {"family": "Olason", "given": "Pall I", "initials": "PI"}, {"family": "Sj\u00f6din", "given": "Andreas", "initials": "A", "orcid": "0000-0001-5350-4219", "researcher": {"href": "https://publications.scilifelab.se/researcher/6398d7c06a414ea6bcaf2579a8587452.json"}}, {"family": "Nylander", "given": "Carin", "initials": "C"}, {"family": "Melin", "given": "Beatrice S", "initials": "BS"}, {"family": "Trygg", "given": "Johan", "initials": "J", "orcid": "0000-0003-3799-6094", "researcher": {"href": "https://publications.scilifelab.se/researcher/7df02186ac1a4a60952737b1690363b7.json"}}, {"family": "Johansson", "given": "Erik", "initials": "E", "orcid": "0000-0002-8526-6224", "researcher": {"href": "https://publications.scilifelab.se/researcher/3503f87335764d4185fade92739855e9.json"}}], "type": "journal article", "published": "2020-09-11", "journal": {"title": "PLoS ONE", "issn": "1932-6203", "volume": "15", "issue": "9", "pages": "e0237721", "issn-l": "1932-6203"}, "abstract": "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 V\u00e4sterbotten 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 V\u00e4sterbotten, 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 V\u00e4sterbotten 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.", "doi": "10.1371/journal.pone.0237721", "pmid": "32915809", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "PONE-D-20-06062"}, {"db": "pmc", "key": "PMC7485808"}], "notes": [], "created": "2020-12-08T23:48:26.250Z", "modified": "2024-01-16T13:48:41.742Z"}