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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...

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Detalles Bibliográficos
Autores principales: Demidov, German, Simakova, Tamara, Vnuchkova, Julia, Bragin, Anton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
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