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Article

A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data.

BMC bioinformatics - 22 Oct 2016

Demidov German, Simakova Tamara, Vnuchkova Julia, Bragin Anton

Abstract excerpt

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, identification of larger variations such as structure variants and copy number variations (CNV) is still being a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27770783
DOI: 10.1186/s12859-016-1272-6
PMCID: PMC5075217

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