DanMAC5

DanMAC5 provides aggregated allele counts from whole-genome sequencing (WGS) of 8,671 Danish individuals (5,418 females) to support variant interpretation and genetic studies of cardiovascular, psychiatric, and headache disorders.


Key Features:

  • Extensive dataset: Allele counts for single nucleotide variants (SNVs) and insertions/deletions (indels) derived from WGS of 8,671 individuals are provided.
  • Data integration and quality control: Data originate from three independent research projects and were processed using a consistent quality-control pipeline with an average coverage of 30x.
  • Summarized variant statistics: The resource delivers summarized, filtered, and merged allele counts at the summary level from the combined datasets.
  • Population-specific allele spectrum: The aggregated allelic frequencies characterize the Danish population to inform variant interpretation within this cohort.

Scientific Applications:

  • Genetic risk investigation: Support studies of genetic risk factors for cardiovascular diseases, psychiatric conditions, and headache disorders using population allele counts.
  • Variant interpretation: Enable comparison of variant allele frequencies against a Danish WGS-derived reference to assist clinical and research interpretation.
  • Population-specific analyses: Facilitate population genetics and cohort-specific analyses that require detailed WGS-derived allele frequency data.

Methodology:

Three independent WGS datasets were processed through a unified quality-control pipeline and then summarized, filtered, and merged to produce allele counts (mean coverage ~30x).

Topics

Details

Cost:
Free of charge
Tool Type:
web application
Operating Systems:
Mac, Linux, Windows
Added:
1/2/2024
Last Updated:
11/24/2024

Operations

Publications

Banasik K, Møller PL, Techlo TR, Holm PC, Walters GB, Ingason A, Rosengren A, Rohde PD, Kogelman LJA, Westergaard D, Siggaard T, Chmura PJ, Chalmer MA, Magnússon ÓÞ, Þórisson GÁ, Stefánsson H, Guðbjartsson DF, Stefánsson K, Olesen J, Winther S, Bøttcher M, Brunak S, Werge T, Nyegaard M, Hansen TF. DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals. BMC Genomic Data. 2023;24(1). doi:10.1186/s12863-023-01132-7. PMID:37244984. PMCID:PMC10225079.

PMID: 37244984
Funding: - Novo Nordisk Fonden: NNF14CC0001, NNF17OC0027594, NNF21OC0066981, NNF21OC0071050 - Candys Foundation: CEHEAD