The clinical implementation of copy number detection in the age of next-generation sequencing
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DOI: 10.1080/14737159.2018.1523723
Abstract: ABSTRACT Introduction: The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined.… read more here.
Keywords: copy number; clinical implementation; detection; implementation copy ... See more keywords