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DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals.
Banasik, Karina; Møller, Peter L; Techlo, Tanya R; Holm, Peter C; Walters, G Bragi; Ingason, Andrés; Rosengren, Anders; Rohde, Palle D; Kogelman, Lisette J A; Westergaard, David; Siggaard, Troels; Chmura, Piotr J; Chalmer, Mona A; Magnússon, Ólafur Þ; Þórisson, Guðmundur Á; Stefánsson, Hreinn; Guðbjartsson, Daníel F; Stefánsson, Kári; Olesen, Jes; Winther, Simon; Bøttcher, Morten; Brunak, Søren; Werge, Thomas; Nyegaard, Mette; Hansen, Thomas F.
  • Banasik K; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark. karina.banasik@cpr.ku.dk.
  • Møller PL; Department of Biomedicine, Aarhus University, Høegh-Guldbergsgade 10, DK-8000, Aarhus C, Denmark.
  • Techlo TR; Danish Headache Center, Department of Neurology, Copenhagen University Hospital, Valdemar Hansensvej 1-13, DK-2600, Glostrup, Denmark.
  • Holm PC; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
  • Walters GB; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Ingason A; Institute for Biological Psychiatry, Mental Health Center Sct Hans, Copenhagen University Hospital, Boeserup vej 2, DK-4000, Roskilde, Denmark.
  • Rosengren A; Institute for Biological Psychiatry, Mental Health Center Sct Hans, Copenhagen University Hospital, Boeserup vej 2, DK-4000, Roskilde, Denmark.
  • Rohde PD; Department of Health Science and Technology, Genomic Medicine Group, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark.
  • Kogelman LJA; Danish Headache Center, Department of Neurology, Copenhagen University Hospital, Valdemar Hansensvej 1-13, DK-2600, Glostrup, Denmark.
  • Westergaard D; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
  • Siggaard T; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
  • Chmura PJ; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
  • Chalmer MA; Danish Headache Center, Department of Neurology, Copenhagen University Hospital, Valdemar Hansensvej 1-13, DK-2600, Glostrup, Denmark.
  • Magnússon ÓÞ; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Þórisson GÁ; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Stefánsson H; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Guðbjartsson DF; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Stefánsson K; deCODE genetics, Sturlugata 8, IS-101, Reykjavik, Iceland.
  • Olesen J; Danish Headache Center, Department of Neurology, Copenhagen University Hospital, Valdemar Hansensvej 1-13, DK-2600, Glostrup, Denmark.
  • Winther S; Department of Cardiology, University Clinic for Cardiovascular Research, Gødstrup Hospital, Hospitalsvej 15, DK-7400, Herning, Denmark.
  • Bøttcher M; Department of Cardiology, University Clinic for Cardiovascular Research, Gødstrup Hospital, Hospitalsvej 15, DK-7400, Herning, Denmark.
  • Brunak S; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
  • Werge T; Institute for Biological Psychiatry, Mental Health Center Sct Hans, Copenhagen University Hospital, Boeserup vej 2, DK-4000, Roskilde, Denmark.
  • Nyegaard M; Department of Biomedicine, Aarhus University, Høegh-Guldbergsgade 10, DK-8000, Aarhus C, Denmark.
  • Hansen TF; Department of Health Science and Technology, Genomic Medicine Group, Aalborg University, Selma Lagerløfs Vej 249, DK-9260, Gistrup, Denmark.
BMC Genom Data ; 24(1): 30, 2023 05 27.
Article en En | MEDLINE | ID: mdl-37244984
ABSTRACT

OBJECTIVES:

Allele counts of sequence variants obtained by whole genome sequencing (WGS) often play a central role in interpreting the results of genetic and genomic research. However, such variant counts are not readily available for individuals in the Danish population. Here, we present a dataset with allele counts for sequence variants (single nucleotide variants (SNVs) and indels) identified from WGS of 8,671 (5,418 females) individuals from the Danish population. The data resource is based on WGS data from three independent research projects aimed at assessing genetic risk factors for cardiovascular, psychiatric, and headache disorders. To enable the sharing of information on sequence variation in Danish individuals, we created summarized statistics on allele counts from anonymized data and made them available through the European Genome-phenome Archive (EGA, https//identifiers.org/ega. DATASET EGAD00001009756 ) and in a dedicated browser, DanMAC5 (available at www.danmac5.dk ). The summary level data and the DanMAC5 browser provide insight into the allelic spectrum of sequence variants segregating in the Danish population, which is important in variant interpretation. DATA DESCRIPTION Three WGS datasets with an average coverage of 30x were processed independently using the same quality control pipeline. Subsequently, we summarized, filtered, and merged allele counts to create a high-quality summary level dataset of sequence variants.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans País como asunto: Europa Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans País como asunto: Europa Idioma: En Año: 2023 Tipo del documento: Article