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Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing

Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are uni...

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Autores principales: Maslov, Alexander Y., Makhortov, Sergey, Sun, Shixiang, Heid, Johanna, Dong, Xiao, Lee, Moonsook, Vijg, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993124/
https://www.ncbi.nlm.nih.gov/pubmed/35394831
http://dx.doi.org/10.1126/sciadv.abm3259
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author Maslov, Alexander Y.
Makhortov, Sergey
Sun, Shixiang
Heid, Johanna
Dong, Xiao
Lee, Moonsook
Vijg, Jan
author_facet Maslov, Alexander Y.
Makhortov, Sergey
Sun, Shixiang
Heid, Johanna
Dong, Xiao
Lee, Moonsook
Vijg, Jan
author_sort Maslov, Alexander Y.
collection PubMed
description Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are unique for each cell, and the quantitative analysis of these low-abundance mutations in normal tissues remains a major challenge in biology. Here, we introduce single-molecule mutation sequencing (SMM-seq), a novel approach for quantitative identification of point mutations in normal cells and tissues.
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spelling pubmed-89931242022-04-22 Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing Maslov, Alexander Y. Makhortov, Sergey Sun, Shixiang Heid, Johanna Dong, Xiao Lee, Moonsook Vijg, Jan Sci Adv Biomedicine and Life Sciences Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are unique for each cell, and the quantitative analysis of these low-abundance mutations in normal tissues remains a major challenge in biology. Here, we introduce single-molecule mutation sequencing (SMM-seq), a novel approach for quantitative identification of point mutations in normal cells and tissues. American Association for the Advancement of Science 2022-04-08 /pmc/articles/PMC8993124/ /pubmed/35394831 http://dx.doi.org/10.1126/sciadv.abm3259 Text en Copyright © 2022 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC). https://creativecommons.org/licenses/by-nc/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial license (https://creativecommons.org/licenses/by-nc/4.0/) , which permits use, distribution, and reproduction in any medium, so long as the resultant use is not for commercial advantage and provided the original work is properly cited.
spellingShingle Biomedicine and Life Sciences
Maslov, Alexander Y.
Makhortov, Sergey
Sun, Shixiang
Heid, Johanna
Dong, Xiao
Lee, Moonsook
Vijg, Jan
Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title_full Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title_fullStr Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title_full_unstemmed Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title_short Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
title_sort single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing
topic Biomedicine and Life Sciences
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993124/
https://www.ncbi.nlm.nih.gov/pubmed/35394831
http://dx.doi.org/10.1126/sciadv.abm3259
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