Cargando…
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...
Autores principales: | , , |
---|---|
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 |
_version_ | 1783439617125515264 |
---|---|
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. |
format | Online Article Text |
id | pubmed-6662281 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT smithlucianp cnvalidatorvalidatingsomaticcopynumberinference AT yamatojona cnvalidatorvalidatingsomaticcopynumberinference AT kuhnermaryk cnvalidatorvalidatingsomaticcopynumberinference |