ArticleEuropean journal of human genetics : EJHG2017
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 2 of them syntheses that pooled it.
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Who cites it
120 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) onJournal of medical genetics · 2023Pooled it
- Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.Genes · 2020Pooled it
- Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.Stroke · 2020Trial
- Polygenic Risk Scores and Its Association With Cutaneous Melanoma Risk in the Swedish Population.Pigment cell & melanoma research · 2026Article
- Risk of venous thromboembolism after SARS-CoV-2 vaccination-Evidence from genome-wide association study and population-based observational study.British journal of clinical pharmacology · 2026Observational
- Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- High-resolution analysis of recent population structure using rare variants.G3 (Bethesda, Md.) · 2026Article
- Fifteen Years of the Genome Analysis Toolkit as the De Facto Standard in Short-Read Variant Calling.International journal of molecular sciences · 2026Review
- Rare regulatory mutations disrupt mesenchymal molecular programs driving endocardial cushion formation in bicuspid aortic valve.Nature communications · 2026Article
- The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.Genome medicine · 2026Article
- Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2026Review
- T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population.Genome research · 2025Article
- Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.Breast cancer research : BCR · 2025Article
- POT1 genetic testing in melanoma-prone families in Sweden: germline variant prevalence and tumor spectrum in identified carriers.Acta oncologica (Stockholm, Sweden) · 2025Article
- UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups.European journal of human genetics : EJHG · 2025Article
- Egypt Genome: Towards an African new genomic era.Journal of advanced research · 2025Review
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- An integrated approach to predict genetic risk for Mosquito-Borne diseases in the local Population of Tehsil Haripur, Khyber Pakhtunkhwa, Pakistan.Scientific reports · 2025Article
- Y chromosome sequencing data suggest dual paths of haplogroup N1a1 into Finland.European journal of human genetics : EJHG · 2025Article
- Regional Variations in the Incidence of Lichen Sclerosus in Sweden: Insights from a Nationwide Register Study (2001-2021).Journal of clinical medicine · 2024Article
60 more citing papers are in PubMed but not listed here.
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27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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