From Exome Sequencing to Data Interpretation: An End-to-End Workflow in Practice

Date: May 21, 2026 - May 21, 2026
Type: Live Webinar
Location: Global
Areas of Interest: Exomes, Rare Disorders

Delivering reliable exome results at scale demands more than sequencing and data analytics performance alone. It requires an integrated, standardized workflow that carries data seamlessly from library preparation through to confident variant interpretation. Yet many research laboratories continue to struggle with fragmented pipelines, inconsistent quality, and interpretation bottlenecks that slow the time to answers.

In this webinar, Mgr. Helena Paszeková from GHC Genetics will showcase how her laboratory implemented an end-to-end exome workflow into their daily operations. Drawing on her experience managing high testing volumes across rare and inherited disorders, she will describe how integrating ELEMENT AVITI™ sequencing with the SOPHiA DDM™ Clinical Exome v3 and Whole Exome v2 Solutions has transformed efficiency, consistency, and turnaround times at GHC Genetics.

Through concrete examples, attendees will see how a unified, standardized approach drives reliable results and can accelerate the path from sequencing data to clinical insights.

Key takeaways from the webinar include:

Why GHC Genetics’ laboratory testing volumes shaped the need for an integrated and standardized exome workflow.
How the combination of ELEMENT AVITI™ sequencing and data analysis with the SOPHiA DDM™ Platform streamlines data flow, reduces hands-on time, and supports consistent, high-confidence variant interpretation.
Real-world case examples illustrating the direct impact of an end-to-end workflow.

Speakers:

Helena Paszeková, Researcher, GHC Genetics
Sevana Yaghoubian, Senior Director of Genomics Product Management, SOPHiA GENETICS
Alocha van den Houte, Senior Field Application Specialist, Element Biosciences

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