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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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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Demidov, German, Simakova, Tamara, Vnuchkova, Julia, Bragin, Anton
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5075217/
https://ncbi.nlm.nih.gov/pubmed/27770783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-016-1272-6
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