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. 2023 May 27;24(1):30.
doi: 10.1186/s12863-023-01132-7.

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

Karina Banasik  1 , Peter L Møller  2 , Tanya R Techlo  3 , Peter C Holm  4 , G Bragi Walters  5 , Andrés Ingason  6 , Anders Rosengren  6 , Palle D Rohde  7 , Lisette J A Kogelman  3 , David Westergaard  4 , Troels Siggaard  4 , Piotr J Chmura  4 , Mona A Chalmer  3 , Ólafur Þ Magnússon  5 , Guðmundur Á Þórisson  5 , Hreinn Stefánsson  5 , Daníel F Guðbjartsson  5 , Kári Stefánsson  5 , Jes Olesen  3 , Simon Winther  8 , Morten Bøttcher  8 , Søren Brunak  4 , Thomas Werge #  6 , Mette Nyegaard #  2   7 , Thomas F Hansen #  4   3
Affiliations

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

Karina Banasik et al. BMC Genom Data. .

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.

Keywords: Browser; Minor allele counts; Sequence variants; Variant interpretation; Whole genome sequencing.

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Conflict of interest statement

KB, PLM, TRT, PCH, AI, AR, PDR, LJAK, DW, TS, PJC, MAC, JO, SW, MB, SB, TW, MN and TFH declare no conflict of interest. KS, DFG, HS, GBW, ÓÞM, and GÁÞ are employees of deCODE genetics.

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