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CNValidator: validating somatic copy-number inference

MOTIVATION: CNValidator assesses the quality of somatic copy-number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy-number calling algorithm, which makes calls independently for each sample. This test is useful in assessing the ac...

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Detalles Bibliográficos
Autores principales: Smith, Lucian P, Yamato, Jon A, Kuhner, Mary K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662281/
https://www.ncbi.nlm.nih.gov/pubmed/30541069
http://dx.doi.org/10.1093/bioinformatics/bty1022
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author Smith, Lucian P
Yamato, Jon A
Kuhner, Mary K
author_facet Smith, Lucian P
Yamato, Jon A
Kuhner, Mary K
author_sort Smith, Lucian P
collection PubMed
description MOTIVATION: CNValidator assesses the quality of somatic copy-number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy-number calling algorithm, which makes calls independently for each sample. This test is useful in assessing the accuracy of copy-number calls, as well as choosing among alternative copy-number algorithms or tuning parameter values. RESULTS: On a dataset of somatic samples from individuals with Barrett’s Esophagus, CNValidator provided feedback on the correctness of sample ploidy calls and also detected data quality issues. AVAILABILITY AND IMPLEMENTATION: CNValidator is available on GitHub at https://github.com/kuhnerlab/CNValidator. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-66622812019-08-02 CNValidator: validating somatic copy-number inference Smith, Lucian P Yamato, Jon A Kuhner, Mary K Bioinformatics Applications Notes MOTIVATION: CNValidator assesses the quality of somatic copy-number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy-number calling algorithm, which makes calls independently for each sample. This test is useful in assessing the accuracy of copy-number calls, as well as choosing among alternative copy-number algorithms or tuning parameter values. RESULTS: On a dataset of somatic samples from individuals with Barrett’s Esophagus, CNValidator provided feedback on the correctness of sample ploidy calls and also detected data quality issues. AVAILABILITY AND IMPLEMENTATION: CNValidator is available on GitHub at https://github.com/kuhnerlab/CNValidator. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2019-08-01 2018-12-12 /pmc/articles/PMC6662281/ /pubmed/30541069 http://dx.doi.org/10.1093/bioinformatics/bty1022 Text en © The Author(s) 2018. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Smith, Lucian P
Yamato, Jon A
Kuhner, Mary K
CNValidator: validating somatic copy-number inference
title CNValidator: validating somatic copy-number inference
title_full CNValidator: validating somatic copy-number inference
title_fullStr CNValidator: validating somatic copy-number inference
title_full_unstemmed CNValidator: validating somatic copy-number inference
title_short CNValidator: validating somatic copy-number inference
title_sort cnvalidator: validating somatic copy-number inference
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662281/
https://www.ncbi.nlm.nih.gov/pubmed/30541069
http://dx.doi.org/10.1093/bioinformatics/bty1022
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