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DanMAC5:a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals

Authors :
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
Þórisson, Guðmundur
Stefánsson, Hreinn
Guðbjartsson, Daníel F.
Stefánsson, Kári
Olesen, Jes
Winther, Simon
Bøttcher, Morten
Brunak, Søren
Werge, Thomas
Nyegaard, Mette
Hansen, Thomas F.
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
Þórisson, Guðmundur
Stefánsson, Hreinn
Guðbjartsson, Daníel F.
Stefánsson, Kári
Olesen, Jes
Winther, Simon
Bøttcher, Morten
Brunak, Søren
Werge, Thomas
Nyegaard, Mette
Hansen, Thomas F.
Source :
Banasik , K , Møller , P L , Techlo , T R , Holm , P C , Walters , G B , Ingason , A , Rosengren , A , Rohde , P D , Kogelman , L J A , Westergaard , D , Siggaard , T , Chmura , P J , Chalmer , M A , Magnússon , Ó , Þórisson , G , Stefánsson , H , Guðbjartsson , D F , Stefánsson , K , Olesen , J , Winther , S , Bøttcher , M , Brunak , S , Werge , T , Nyegaard , M & Hansen , T F 2023 , ' DanMAC5 : a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals ' , BMC Genomic Data , vol. 24 , no. 1 , 30 .
Publication Year :
2023

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:// ident ifiers. org/ ega. datas et: EGAD0 00010 09756) and in a dedicated browser, DanMAC5 (available at www. danma c5. 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.<br />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.

Details

Database :
OAIster
Journal :
Banasik , K , Møller , P L , Techlo , T R , Holm , P C , Walters , G B , Ingason , A , Rosengren , A , Rohde , P D , Kogelman , L J A , Westergaard , D , Siggaard , T , Chmura , P J , Chalmer , M A , Magnússon , Ó , Þórisson , G , Stefánsson , H , Guðbjartsson , D F , Stefánsson , K , Olesen , J , Winther , S , Bøttcher , M , Brunak , S , Werge , T , Nyegaard , M & Hansen , T F 2023 , ' DanMAC5 : a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals ' , BMC Genomic Data , vol. 24 , no. 1 , 30 .
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1397306943
Document Type :
Electronic Resource