Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening

摘要

Backgroundprenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with benchtop NGS platform and routine clinical diagnosis.