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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
Descripción
Sumario: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.