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Beckman, Kenneth
in Cooperation with on an Cooperation-Score of 37%
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article
Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory
Abstract
This article describes the implementation of a genetic testing essay and its use in the clinic for 5 years. Two types of genomic changes are analyzed: mutations (changes at a single genomic position) and small deletions and duplications (CNV).I developed and implemented the method being used for CNV detection also implemented in Hadoop-CNV-RF. This article demonstrates the long-term impact of my work in a clinic.