Investigating the dark-side of the genome: a barrier to human disease variant discovery?

The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a ra...

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Detalles Bibliográficos
Autores principales: Ryan, Niamh M., Corvin, Aiden
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357705/
https://www.ncbi.nlm.nih.gov/pubmed/37468985
http://dx.doi.org/10.1186/s40659-023-00455-0
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author Ryan, Niamh M.
Corvin, Aiden
author_facet Ryan, Niamh M.
Corvin, Aiden
author_sort Ryan, Niamh M.
collection PubMed
description The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a range of disease and study types, showing that dark regions are likely preventing researchers from identifying genetic variants relevant to human disease. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40659-023-00455-0.
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spelling pubmed-103577052023-07-21 Investigating the dark-side of the genome: a barrier to human disease variant discovery? Ryan, Niamh M. Corvin, Aiden Biol Res Short Report The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such ‘dark’ regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a range of disease and study types, showing that dark regions are likely preventing researchers from identifying genetic variants relevant to human disease. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40659-023-00455-0. BioMed Central 2023-07-20 /pmc/articles/PMC10357705/ /pubmed/37468985 http://dx.doi.org/10.1186/s40659-023-00455-0 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 Short Report
Ryan, Niamh M.
Corvin, Aiden
Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title_full Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title_fullStr Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title_full_unstemmed Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title_short Investigating the dark-side of the genome: a barrier to human disease variant discovery?
title_sort investigating the dark-side of the genome: a barrier to human disease variant discovery?
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357705/
https://www.ncbi.nlm.nih.gov/pubmed/37468985
http://dx.doi.org/10.1186/s40659-023-00455-0
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