SweGen specifications

Information


Unique identifier OMICS_14058
Name SweGen
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Adam Ameur

Additional information


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Publication for SweGen

SweGen citations

 (2)
library_books

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

2018
Hum Genome Var
PMCID: 5874392
PMID: 29619236
DOI: 10.1038/hgv.2018.9

[…] tabase (gnomAD), including 126,216 exome sequences and 15,136 whole-genome sequences from unrelated individuals (http://gnomad.broadinstitute.org/), and the SweGene Variant Frequency browser (https://swegen-exac.nbis.se/), containing variants from a cross-population sample of 1,000 Swedish whole genomes. For gnomAD frequencies, we chose the non-Finnish European population sample as the most repres […]

library_books

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

2018
Nat Commun
PMCID: 5824957
PMID: 29476074
DOI: 10.1038/s41467-018-03244-6

[…] red in vivo, i.e., 0.4–0.6 allele frequency. First, a set of high-confidence SNVs for which the individual was germline heterozygote (bulk and blood) and present with an allele frequency > 0.3 in the SweGen population was generated. Second, the germline heterozygote SNVs with a clone depth minimum of 15× were selected. Third, the number of SNVs that were detected in the clone bam file by GATK and/ […]

SweGen institution(s)
Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; Science for Life Laboratory, Department of Medical Sciences, Molecular Medicine, Uppsala University, Uppsala, Sweden; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden; Science for Life Laboratory, Department of Biochemistry and Biophysics (DBB), Stockholm University, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Science for Life Laboratory, School of Biotechnology, Division of Gene Technology, Royal Institute of Technology, Stockholm, Sweden
SweGen funding source(s)
This work was funded by Science for Life Laboratory (SciLifeLab) as a National Project, supported by the Knut and Alice Wallenberg Foundation (2014.0272), and The National Research Council (PI:UG).

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