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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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Bibliographische Detailangaben
Veröffentlicht in:Genome Med
Hauptverfasser: Hong, Celine S., Singh, Larry N., Mullikin, James C., Biesecker, Leslie G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Online Zugang: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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