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DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies

Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an end-to-end solution for obtaining variant fitness and error estimates from raw seque...

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Autores principales: Faure, Andre J., Schmiedel, Jörn M., Baeza-Centurion, Pablo, Lehner, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429474/
https://www.ncbi.nlm.nih.gov/pubmed/32799905
http://dx.doi.org/10.1186/s13059-020-02091-3
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author Faure, Andre J.
Schmiedel, Jörn M.
Baeza-Centurion, Pablo
Lehner, Ben
author_facet Faure, Andre J.
Schmiedel, Jörn M.
Baeza-Centurion, Pablo
Lehner, Ben
author_sort Faure, Andre J.
collection PubMed
description Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an end-to-end solution for obtaining variant fitness and error estimates from raw sequencing data. A key innovation of DiMSum is the use of an interpretable error model that captures the main sources of variability arising in DMS workflows, outperforming previous methods. DiMSum is available as an R/Bioconda package and provides summary reports to help researchers diagnose common DMS pathologies and take remedial steps in their analyses.
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spelling pubmed-74294742020-08-18 DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies Faure, Andre J. Schmiedel, Jörn M. Baeza-Centurion, Pablo Lehner, Ben Genome Biol Software Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an end-to-end solution for obtaining variant fitness and error estimates from raw sequencing data. A key innovation of DiMSum is the use of an interpretable error model that captures the main sources of variability arising in DMS workflows, outperforming previous methods. DiMSum is available as an R/Bioconda package and provides summary reports to help researchers diagnose common DMS pathologies and take remedial steps in their analyses. BioMed Central 2020-08-17 /pmc/articles/PMC7429474/ /pubmed/32799905 http://dx.doi.org/10.1186/s13059-020-02091-3 Text en © The Author(s) 2020 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/. The Creative Commons Public Domain Dedication waiver (http://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 Software
Faure, Andre J.
Schmiedel, Jörn M.
Baeza-Centurion, Pablo
Lehner, Ben
DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title_full DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title_fullStr DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title_full_unstemmed DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title_short DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
title_sort dimsum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7429474/
https://www.ncbi.nlm.nih.gov/pubmed/32799905
http://dx.doi.org/10.1186/s13059-020-02091-3
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