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Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates

It is now commonplace to investigate tumour samples using whole-genome sequencing, and some commonly performed tasks are the estimation of cellularity (or sample purity), the genome-wide profiling of copy numbers, and the assessment of sub-clonal behaviours. Several tools are available to undertake...

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Detalles Bibliográficos
Autor principal: Lynch, Andy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765721/
https://www.ncbi.nlm.nih.gov/pubmed/26962434
http://dx.doi.org/10.12688/f1000research.7453.1
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author Lynch, Andy
author_facet Lynch, Andy
author_sort Lynch, Andy
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description It is now commonplace to investigate tumour samples using whole-genome sequencing, and some commonly performed tasks are the estimation of cellularity (or sample purity), the genome-wide profiling of copy numbers, and the assessment of sub-clonal behaviours. Several tools are available to undertake these tasks, but often give conflicting results – not least because there is often genuine uncertainty due to a lack of model identifiability.  Presented here is a tool, "Crambled", that allows for an intuitive visual comparison of the conflicting solutions. Crambled is implemented as a Shiny application within R, and is accompanied by example images from two use cases (one tumour sample with matched normal sequencing, and one standalone cell line example) as well as functions to generate the necessary images from any sequencing data set.  Through the use of Crambled, a user may gain insight into why each tool has offered its given solution and combined with a knowledge of the disease being studied can choose between the competing solutions in an informed manner.
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spelling pubmed-47657212016-03-08 Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates Lynch, Andy F1000Res Software Tool Article It is now commonplace to investigate tumour samples using whole-genome sequencing, and some commonly performed tasks are the estimation of cellularity (or sample purity), the genome-wide profiling of copy numbers, and the assessment of sub-clonal behaviours. Several tools are available to undertake these tasks, but often give conflicting results – not least because there is often genuine uncertainty due to a lack of model identifiability.  Presented here is a tool, "Crambled", that allows for an intuitive visual comparison of the conflicting solutions. Crambled is implemented as a Shiny application within R, and is accompanied by example images from two use cases (one tumour sample with matched normal sequencing, and one standalone cell line example) as well as functions to generate the necessary images from any sequencing data set.  Through the use of Crambled, a user may gain insight into why each tool has offered its given solution and combined with a knowledge of the disease being studied can choose between the competing solutions in an informed manner. F1000Research 2015-12-07 /pmc/articles/PMC4765721/ /pubmed/26962434 http://dx.doi.org/10.12688/f1000research.7453.1 Text en Copyright: © 2015 Lynch A http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Software Tool Article
Lynch, Andy
Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title_full Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title_fullStr Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title_full_unstemmed Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title_short Crambled: A Shiny application to enable intuitive resolution of conflicting cellularity estimates
title_sort crambled: a shiny application to enable intuitive resolution of conflicting cellularity estimates
topic Software Tool Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765721/
https://www.ncbi.nlm.nih.gov/pubmed/26962434
http://dx.doi.org/10.12688/f1000research.7453.1
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