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mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data

Multiplexed assays of variant effect (MAVE) experimentally measure the effect of large numbers of sequence variants by selective enrichment of sequences with desirable properties followed by quantification by sequencing. mutscan is an R package for flexible analysis of such experiments, covering the...

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Autores principales: Soneson, Charlotte, Bendel, Alexandra M., Diss, Guillaume, Stadler, Michael B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236832/
https://www.ncbi.nlm.nih.gov/pubmed/37264470
http://dx.doi.org/10.1186/s13059-023-02967-0
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author Soneson, Charlotte
Bendel, Alexandra M.
Diss, Guillaume
Stadler, Michael B.
author_facet Soneson, Charlotte
Bendel, Alexandra M.
Diss, Guillaume
Stadler, Michael B.
author_sort Soneson, Charlotte
collection PubMed
description Multiplexed assays of variant effect (MAVE) experimentally measure the effect of large numbers of sequence variants by selective enrichment of sequences with desirable properties followed by quantification by sequencing. mutscan is an R package for flexible analysis of such experiments, covering the entire workflow from raw reads up to statistical analysis and visualization. The core components are implemented in C++ for efficiency. Various experimental designs are supported, including single or paired reads with optional unique molecular identifiers. To find variants with changed relative abundance, mutscan employs established statistical models provided in the edgeR and limma packages. mutscan is available from https://github.com/fmicompbio/mutscan. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-02967-0.
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spelling pubmed-102368322023-06-03 mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data Soneson, Charlotte Bendel, Alexandra M. Diss, Guillaume Stadler, Michael B. Genome Biol Software Multiplexed assays of variant effect (MAVE) experimentally measure the effect of large numbers of sequence variants by selective enrichment of sequences with desirable properties followed by quantification by sequencing. mutscan is an R package for flexible analysis of such experiments, covering the entire workflow from raw reads up to statistical analysis and visualization. The core components are implemented in C++ for efficiency. Various experimental designs are supported, including single or paired reads with optional unique molecular identifiers. To find variants with changed relative abundance, mutscan employs established statistical models provided in the edgeR and limma packages. mutscan is available from https://github.com/fmicompbio/mutscan. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-02967-0. BioMed Central 2023-06-01 /pmc/articles/PMC10236832/ /pubmed/37264470 http://dx.doi.org/10.1186/s13059-023-02967-0 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 Software
Soneson, Charlotte
Bendel, Alexandra M.
Diss, Guillaume
Stadler, Michael B.
mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title_full mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title_fullStr mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title_full_unstemmed mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title_short mutscan—a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data
title_sort mutscan—a flexible r package for efficient end-to-end analysis of multiplexed assays of variant effect data
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236832/
https://www.ncbi.nlm.nih.gov/pubmed/37264470
http://dx.doi.org/10.1186/s13059-023-02967-0
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