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Personalized genome structure via single gamete sequencing

Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome, which historically has been performed with p...

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Detalles Bibliográficos
Autores principales: Lyu, Ruqian, Tsui, Vanessa, McCarthy, Davis J., Crismani, Wayne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054432/
https://www.ncbi.nlm.nih.gov/pubmed/33874978
http://dx.doi.org/10.1186/s13059-021-02327-w
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author Lyu, Ruqian
Tsui, Vanessa
McCarthy, Davis J.
Crismani, Wayne
author_facet Lyu, Ruqian
Tsui, Vanessa
McCarthy, Davis J.
Crismani, Wayne
author_sort Lyu, Ruqian
collection PubMed
description Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics.
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spelling pubmed-80544322021-04-20 Personalized genome structure via single gamete sequencing Lyu, Ruqian Tsui, Vanessa McCarthy, Davis J. Crismani, Wayne Genome Biol Review Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual’s genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics. BioMed Central 2021-04-19 /pmc/articles/PMC8054432/ /pubmed/33874978 http://dx.doi.org/10.1186/s13059-021-02327-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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 Review
Lyu, Ruqian
Tsui, Vanessa
McCarthy, Davis J.
Crismani, Wayne
Personalized genome structure via single gamete sequencing
title Personalized genome structure via single gamete sequencing
title_full Personalized genome structure via single gamete sequencing
title_fullStr Personalized genome structure via single gamete sequencing
title_full_unstemmed Personalized genome structure via single gamete sequencing
title_short Personalized genome structure via single gamete sequencing
title_sort personalized genome structure via single gamete sequencing
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054432/
https://www.ncbi.nlm.nih.gov/pubmed/33874978
http://dx.doi.org/10.1186/s13059-021-02327-w
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