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A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data
BACKGROUND: Multiplex polymerase chain reaction (PCR) is a common enrichment technique for targeted massive parallel sequencing (MPS) protocols. MPS is widely used in biomedical research and clinical diagnostics as the fast and accurate tool for the detection of short genetic variations. However, id...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075217/ https://www.ncbi.nlm.nih.gov/pubmed/27770783 http://dx.doi.org/10.1186/s12859-016-1272-6 |