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Human whole genome sequencing in South Africa

The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to access affordable platforms capable of human whole genome sequencing locally and DNA samples had to be exported. Here we report the whole genome...

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Autores principales: Glanzmann, Brigitte, Jooste, Tracey, Ghoor, Samira, Gordon, Richard, Mia, Rizwana, Mao, Jun, Li, Hao, Charls, Patrick, Douman, Craig, Kotze, Maritha J., Peeters, Armand V., Loots, Glaudina, Esser, Monika, Tiemessen, Caroline T., Wilkinson, Robert J., Louw, Johan, Gray, Glenda, Warren, Robin M., Möller, Marlo, Kinnear, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803990/
https://www.ncbi.nlm.nih.gov/pubmed/33436733
http://dx.doi.org/10.1038/s41598-020-79794-x
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author Glanzmann, Brigitte
Jooste, Tracey
Ghoor, Samira
Gordon, Richard
Mia, Rizwana
Mao, Jun
Li, Hao
Charls, Patrick
Douman, Craig
Kotze, Maritha J.
Peeters, Armand V.
Loots, Glaudina
Esser, Monika
Tiemessen, Caroline T.
Wilkinson, Robert J.
Louw, Johan
Gray, Glenda
Warren, Robin M.
Möller, Marlo
Kinnear, Craig
author_facet Glanzmann, Brigitte
Jooste, Tracey
Ghoor, Samira
Gordon, Richard
Mia, Rizwana
Mao, Jun
Li, Hao
Charls, Patrick
Douman, Craig
Kotze, Maritha J.
Peeters, Armand V.
Loots, Glaudina
Esser, Monika
Tiemessen, Caroline T.
Wilkinson, Robert J.
Louw, Johan
Gray, Glenda
Warren, Robin M.
Möller, Marlo
Kinnear, Craig
author_sort Glanzmann, Brigitte
collection PubMed
description The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to access affordable platforms capable of human whole genome sequencing locally and DNA samples had to be exported. Here we report the whole genome sequences of the first six human DNA samples sequenced and analysed at the South African Medical Research Council’s Genomics Centre. We demonstrate that the data obtained is of high quality, with an average sequencing depth of 36.41, and that the output is comparable to data generated internationally on a similar platform. The Genomics Centre creates an environment where African researchers are able to access world class facilities, increasing local capacity to sequence whole genomes as well as store and analyse the data.
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spelling pubmed-78039902021-01-13 Human whole genome sequencing in South Africa Glanzmann, Brigitte Jooste, Tracey Ghoor, Samira Gordon, Richard Mia, Rizwana Mao, Jun Li, Hao Charls, Patrick Douman, Craig Kotze, Maritha J. Peeters, Armand V. Loots, Glaudina Esser, Monika Tiemessen, Caroline T. Wilkinson, Robert J. Louw, Johan Gray, Glenda Warren, Robin M. Möller, Marlo Kinnear, Craig Sci Rep Article The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to access affordable platforms capable of human whole genome sequencing locally and DNA samples had to be exported. Here we report the whole genome sequences of the first six human DNA samples sequenced and analysed at the South African Medical Research Council’s Genomics Centre. We demonstrate that the data obtained is of high quality, with an average sequencing depth of 36.41, and that the output is comparable to data generated internationally on a similar platform. The Genomics Centre creates an environment where African researchers are able to access world class facilities, increasing local capacity to sequence whole genomes as well as store and analyse the data. Nature Publishing Group UK 2021-01-12 /pmc/articles/PMC7803990/ /pubmed/33436733 http://dx.doi.org/10.1038/s41598-020-79794-x Text en © The Author(s) 2021 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/.
spellingShingle Article
Glanzmann, Brigitte
Jooste, Tracey
Ghoor, Samira
Gordon, Richard
Mia, Rizwana
Mao, Jun
Li, Hao
Charls, Patrick
Douman, Craig
Kotze, Maritha J.
Peeters, Armand V.
Loots, Glaudina
Esser, Monika
Tiemessen, Caroline T.
Wilkinson, Robert J.
Louw, Johan
Gray, Glenda
Warren, Robin M.
Möller, Marlo
Kinnear, Craig
Human whole genome sequencing in South Africa
title Human whole genome sequencing in South Africa
title_full Human whole genome sequencing in South Africa
title_fullStr Human whole genome sequencing in South Africa
title_full_unstemmed Human whole genome sequencing in South Africa
title_short Human whole genome sequencing in South Africa
title_sort human whole genome sequencing in south africa
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803990/
https://www.ncbi.nlm.nih.gov/pubmed/33436733
http://dx.doi.org/10.1038/s41598-020-79794-x
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