This ASHG 2017 customer presentation series will cover various topics in clinical interpretation and how NxClinical 4.0 is helping clinical labs achieve their goals. Learn from three experts in Cytogenetics and Molecular Genetics.
Dr. Ingrid Simonic
Head of Cytogenetics
Cambridge University Hospitals
Are we good at tailoring our clinical NGS analysis for individual patients or should we optimize more?
See how Dr. Simonic consolidates her existing 2-3 stage consecutive testing workflow for constitutional referrals into a single stage SNV/CNV analysis pipeline.
In Dr. Darbo's project, NxClinical 4.0 allowed for sequential interpretation of cases for CNVs, dominant SNVs, recessive SNVs, and compound events all generated from a single NGS assay.
NxClinical allowed integrative analysis of copy number, areas of homozygosity and sequence variants allowing for comprehensive genetic analysis in a Costa Rican population.