Dr. Carol Saunders, Clinical Director, Children’s Mercy Hospital discusses a comparison of different software tools for CNV detection from NGS data with the goal of clinical implementation was performed using a small data set of WES and WGS samples. N_xClinical was one of the three tools evaluated and was the most user-friendly with a comprehensive CNV analysis suite with an interactive graphical user interface. Results from the comparison are presented along with detailed analysis and interpretation of selected cases in N_xClinical . The authors conclude that existing software can provide accurate CNV detection from both WES and WGS and that integration of CNV detection during clinical NGS testing is an alternative to exome-array.

 

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