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

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...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225079/
https://www.ncbi.nlm.nih.gov/pubmed/37244984
http://dx.doi.org/10.1186/s12863-023-01132-7
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author 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.
author_facet 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.
author_sort Banasik, Karina
collection PubMed
description 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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spelling pubmed-102250792023-05-29 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. BMC Genom Data Data Note 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. BioMed Central 2023-05-27 /pmc/articles/PMC10225079/ /pubmed/37244984 http://dx.doi.org/10.1186/s12863-023-01132-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Data Note
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.
DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title_full DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title_fullStr DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title_full_unstemmed DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title_short DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals
title_sort danmac5: a browser of aggregated sequence variants from 8,671 whole genome sequenced danish individuals
topic Data Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225079/
https://www.ncbi.nlm.nih.gov/pubmed/37244984
http://dx.doi.org/10.1186/s12863-023-01132-7
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