Live Webinar: Combining CNV and SNV Analysis for Genomic Diagnostics on a Single Sample and Platform

Date: March 13, 2018
Time: 11:00 am ET

This webinar will share why clinical genetics labs are seeking to integrate cytogenetics and molecular data to assess abnormalities using a single sample on a single workflow platform:

  • Genomics diagnostics laboratories are advancing toward array testing and whole exome sequencing on a single sample.
  • Labs are also shifting to the analysis of all molecular events for a patient sample – whether structural (CNVs, deletions, duplications, LOH regions, translocations) or molecular (SNPs, insertions, deletions).
  • Labs are confident the diagnostic yield of combined CNV / NGS analysis exceeds that of each individual assay type, making 1+1=3.

Webinar presenter, Ellen van Binsbergen, a laboratory specialist in clinical genetics at the University Medical Center Utrecht (UMCU) in The Netherlands, will also demonstrate how:

  • Alissa Interpret, Agilent's next evolution of Cartagenia Bench, was used in a case of multiple skeletal abnormalities to assess data from CNV analysis via SNP array and from WES analysis.
  • By jointly triaging, classifying, and curating molecular and structural variants, UMCU was able to pinpoint variants inherited from the father AND deletions in the maternal allele – all yielded from a single sample, on one platform.



Ellen van Binsbergen
Clinical Genetics Laboratory Specialist University Medical Center Utrecht (UMCU) The Netherlands 


Date: March 13, 2018
Time: 8:00 am PT / 11:00 am ET
Scheduling conflict? You can still participate! All registrants will receive a link to view an on demand recording of the event.
Questions? Contact