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Quantitative analysis of differences in copy numbers using read depth obtained from PCR-enriched samples and controls

BACKGROUND: Next-generation sequencing (NGS) is rapidly becoming common practice in clinical diagnostics and cancer research. In addition to the detection of single nucleotide variants (SNVs), information on copy number variants (CNVs) is of great interest. Several algorithms exist to detect CNVs by...

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Veröffentlicht in:BMC Bioinformatics
Hauptverfasser: Reinecke, Frank, Satya, Ravi Vijaya, DiCarlo, John
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4384318/
https://ncbi.nlm.nih.gov/pubmed/25626454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-014-0428-5
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