Share this post

ben darbro oval crop pic.jpgSpeaker information
Dr. Benjamin Darbro
Director of Cyto & Molecular
University of Iowa Hospitals & Clinics

The Cytogenetics and Molecular Genetics Laboratory at the University of Iowa performs about 6000 tests on over 3500 patient samples per year. Primary clinical testing volume is in chromosomal analysis (karyotyping), FISH, and CMA. Next steps for the lab is multigene NGS Panels for Newborn Screening Disorder and Neurodevelopmental Disorders among others.
The goal with the presented project was to see if copy number variants can be detected reliably in sequencing data and whether combined analysis and interpretation of CNVs and sequence variants can be performed in one software. Dr. Darbro evaluated NxClinical for a custom neurodevelopmental CNV targeted sequencing panel. The lab used the BAM MSR algorithm in NxClinical to detect copy number in sequencing data. They used the automated decision tree in NxClinical to pre-classify events and used filters including AOH and allelic imbalance (AIB) size, severity of SNV consequences, and compound genetic events to narrow down variants. The presentation details the review criteria with a step-by-step walk through of a single case review in NxClinical. 
The results: of the 50 patients samples run on this panel, NxClinical 4.0 was 100% accurate for detection of known pathogenic CNV originally detected on arrays, capable of visualizing both CNVs and sequence variants at the same time, and allowed for sequential interpretation of cases for CNVs, dominant SNVs, recessive SNVs, and compound events.