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SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data

BACKGROUND: Recently, it has become possible to collect next-generation DNA sequencing data sets that are composed of multiple samples from multiple biological units where each of these samples may be from a single cell or bulk tissue. Yet, there does not yet exist a tool for simulating DNA sequenci...

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Autores principales: Giguere, Collin, Dubey, Harsh Vardhan, Sarsani, Vishal Kumar, Saddiki, Hachem, He, Shai, Flaherty, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249349/
https://www.ncbi.nlm.nih.gov/pubmed/32456609
http://dx.doi.org/10.1186/s12859-020-03550-1
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author Giguere, Collin
Dubey, Harsh Vardhan
Sarsani, Vishal Kumar
Saddiki, Hachem
He, Shai
Flaherty, Patrick
author_facet Giguere, Collin
Dubey, Harsh Vardhan
Sarsani, Vishal Kumar
Saddiki, Hachem
He, Shai
Flaherty, Patrick
author_sort Giguere, Collin
collection PubMed
description BACKGROUND: Recently, it has become possible to collect next-generation DNA sequencing data sets that are composed of multiple samples from multiple biological units where each of these samples may be from a single cell or bulk tissue. Yet, there does not yet exist a tool for simulating DNA sequencing data from such a nested sampling arrangement with single-cell and bulk samples so that developers of analysis methods can assess accuracy and precision. RESULTS: We have developed a tool that simulates DNA sequencing data from hierarchically grouped (correlated) samples where each sample is designated bulk or single-cell. Our tool uses a simple configuration file to define the experimental arrangement and can be integrated into software pipelines for testing of variant callers or other genomic tools. CONCLUSIONS: The DNA sequencing data generated by our simulator is representative of real data and integrates seamlessly with standard downstream analysis tools.
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spelling pubmed-72493492020-06-04 SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data Giguere, Collin Dubey, Harsh Vardhan Sarsani, Vishal Kumar Saddiki, Hachem He, Shai Flaherty, Patrick BMC Bioinformatics Software BACKGROUND: Recently, it has become possible to collect next-generation DNA sequencing data sets that are composed of multiple samples from multiple biological units where each of these samples may be from a single cell or bulk tissue. Yet, there does not yet exist a tool for simulating DNA sequencing data from such a nested sampling arrangement with single-cell and bulk samples so that developers of analysis methods can assess accuracy and precision. RESULTS: We have developed a tool that simulates DNA sequencing data from hierarchically grouped (correlated) samples where each sample is designated bulk or single-cell. Our tool uses a simple configuration file to define the experimental arrangement and can be integrated into software pipelines for testing of variant callers or other genomic tools. CONCLUSIONS: The DNA sequencing data generated by our simulator is representative of real data and integrates seamlessly with standard downstream analysis tools. BioMed Central 2020-05-26 /pmc/articles/PMC7249349/ /pubmed/32456609 http://dx.doi.org/10.1186/s12859-020-03550-1 Text en © The Author(s) 2020 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/. 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
Giguere, Collin
Dubey, Harsh Vardhan
Sarsani, Vishal Kumar
Saddiki, Hachem
He, Shai
Flaherty, Patrick
SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title_full SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title_fullStr SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title_full_unstemmed SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title_short SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data
title_sort scsim: jointly simulating correlated single-cell and bulk next-generation dna sequencing data
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249349/
https://www.ncbi.nlm.nih.gov/pubmed/32456609
http://dx.doi.org/10.1186/s12859-020-03550-1
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