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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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Detalles Bibliográficos
Autores principales: Reinecke, Frank, Satya, Ravi Vijaya, DiCarlo, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384318/
https://www.ncbi.nlm.nih.gov/pubmed/25626454
http://dx.doi.org/10.1186/s12859-014-0428-5