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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:
Speakers:
Discover cutting-edge insights with this on-demand session from the ACGH Congress. Dr. Carlos Santamaría, Head of the Molecular Diagnostics Division at the National Children’s Hospital in Costa Rica, shares real-world experiences with exome sequencing in a national pediatric setting. Followed by Dr. Sevana Yaghoubian, Global Director of Genomics at SOPHiA GENETICS, presenting the SOPHiA DDM™ Exome Enhanced Solutions and their impact on clinical decision-making
The SBG Congress in Brazil, organized by the Brazilian Society of Genetics is a prestigious event that gathers leading scientists and researchers in the field of genetics. This annual congress provides a platform for the presentation of cutting-edge research, innovative techniques, and advancements in genetic studies.
21/08
Technical Talk | 13:00 – 14:00 | Courchevel Room
SOPHiA DDM™ platform capabilities and an Investigation of the host genome influence on long COVID empowered by SOPHiA Whole Exome Solution
Speakers:
Dr. Eduardo José Melo dos Santos, Phd, MSc.
Laboratório de Genética de Doenças Complexas, UFPA, Belém, PA
Gabrielle Martins Gonçalves, MSc.
SOPHiA GENETICS Implementation Scientist LATAM
We look forward to seeing you there!
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
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