Article
Detection and interpretation of genomic structural variation in health and disease.
Expert review of molecular diagnostics - 1 Jan 2013
Vandeweyer Geert, Kooy R Frank
Abstract excerpt
Recent technological advances in the detection of genomic structural variation have revolutionized the field of medical genetics. Genome-wide screening for copy-number variants in routine molecular diagnostics unveiled the presence of an unforeseen amount of structural variation in the genome. Owing to the massive amount of patients analyzed, the analysis of the resulting data became exponentially more complex....
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