Cargando…
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1785050322075385856 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10225079 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT banasikkarina danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT møllerpeterl danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT techlotanyar danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT holmpeterc danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT waltersgbragi danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT ingasonandres danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT rosengrenanders danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT rohdepalled danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT kogelmanlisetteja danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT westergaarddavid danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT siggaardtroels danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT chmurapiotrj danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT chalmermonaa danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT magnussonolafurþ danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT þorissonguðmundura danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT stefanssonhreinn danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT guðbjartssondanielf danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT stefanssonkari danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT olesenjes danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT winthersimon danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT bøttchermorten danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT brunaksøren danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT wergethomas danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT nyegaardmette danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals AT hansenthomasf danmac5abrowserofaggregatedsequencevariantsfrom8671wholegenomesequenceddanishindividuals |