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Assessing the reproducibility of exome copy number variations predictions

BACKGROUND: Reproducibility is receiving increased attention across many domains of science and genomics is no exception. Efforts to identify copy number variations (CNVs) from exome sequence (ES) data have been increasing. Many algorithms have been published to discover CNVs from exomes and a major...

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Библиографические подробности
Опубликовано в: :Genome Med
Главные авторы: Hong, Celine S., Singh, Larry N., Mullikin, James C., Biesecker, Leslie G.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2016
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4976506/
https://ncbi.nlm.nih.gov/pubmed/27503473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0336-6
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