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Le invitamos a participar en el exclusivo GENOMICS INSIGHTS DAY, un encuentro que reunirá a expertos y líderes clínicos para explorar los avances más recientes en genómica aplicada, oncología y diagnóstico de enfermedades raras.
El evento contará con la participación de especialistas y clientes que compartirán su experiencia real en la práctica clínica, abordando temas de alto impacto: desde la implementación de paneles de cáncer hereditario hasta el uso del exoma clínico como solución multipanel para el diagnóstico genético de enfermedades raras. La jornada culminará con una visión integral presentada por nuestro equipo sobre el rastreo del cáncer: del riesgo hereditario a la detección en tempo real.
Asimismo, el evento destacará experiencias reales de clientes que compartirán su práctica clínica utilizando la plataforma SOPHiA DDM™, ofreciendo una perspectiva concreta sobre su impacto en el diagnóstico y la toma de decisiones.
A continuación, encontrará la agenda preliminar del evento
What: SOPHiA GENETICS Exclusive Networking event
Where: Hotel Ritz-Carlton
Date: 28 de mayo
Time: 19:00 - 22:00
19:00 – 19:30
De somático a germinal en cáncer: Implementación de un panel de cáncer hereditario.
Francisco Pérez Blanco, PhD,
Coordinador Diagnóstico Molecular y Biomarcadores en Clínica Alemana de Santiago, Chile
19:30 – 20:00
El Exoma Clínico: una solución multipanel.
Diagnóstico genético de enfermedades raras
Juan Martín Marques, PhD,
Líder de Servicios de NGS, Laboratorio de Biología Molecular del Sanatorio Americano , Uruguay
20:00 - 20:30
Rastreando el Cáncer: Del Riesgo Hereditario a la Detección en Tiempo Real
Bruno Piovezan Subject Matter Expert LATAM
SOPHiA GENETICS
21:00 – 22:00
Cocktails & Networking
Discover how SOPHiA DDM™ enables accurate analysis across multiple disease areas – from oncology to inherited disorders
Connect with your peers and Enjoy a networking environment with your peers and users of SOPHiA DDM™ Platform.
Discuss the future of research and healthcare institutions to harness NGS data for quick, robust, and actionable insights, guiding best decisions.
Le invitamos a participar en el exclusivo GENOMICS INSIGHTS DAY, un encuentro que reunirá a expertos y líderes clínicos para explorar los avances más recientes en genómica aplicada, oncología y diagnóstico de enfermedades raras.
El evento contará con la participación de especialistas y clientes que compartirán su experiencia real en la práctica clínica, abordando temas de alto impacto: desde la implementación de paneles de cáncer hereditario hasta el uso del exoma clínico como solución multipanel para el diagnóstico genético de enfermedades raras. La jornada culminará con una visión integral presentada por nuestro equipo sobre el rastreo del cáncer: del riesgo hereditario a la detección en tempo real.
Asimismo, el evento destacará experiencias reales de clientes que compartirán su práctica clínica utilizando la plataforma SOPHiA DDM™, ofreciendo una perspectiva concreta sobre su impacto en el diagnóstico y la toma de decisiones.
A continuación, encontrará la agenda preliminar del evento
What: SOPHiA GENETICS exclusive networking event
Date: 26 de mayo
Time: 18h:00-21h:30
Where: Belmond Miraflores
18:00 – 18:30
Bienvenida - SOPHiA GENETICS & MASED: Potenciando la Genómica en Perú
18:30 – 19:00
Optimización del diagnóstico de enfermedades raras pediátricas mediante plataforma SOPHiA GENETICS: reporte de dos casos
Dr. Nelson Purizaca
Médico asistente del Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Perú
19:00 – 20:00
El Exoma Clínico: una solución multipanel.
Diagnóstico genético de enfermedades raras
Juan Martín Marques, PhD,
Líder de Servicios de NGS, Laboratorio de Biología Molecular del Sanatorio Americano , Uruguay
20:00 - 20:30
Rastreando el Cáncer: Del Riesgo Hereditario a la Detección en Tiempo Real
Bruno Piovezan, Msc.
Subject Matter Expert LATAM
SOPHiA GENETICS
20:30 – 21:30
Cocktails & Networking
Discover how SOPHiA DDM™ enables accurate analysis across multiple disease areas – from oncology to inherited disorders
Connect with your peers and Enjoy a networking environment with your peers and users of SOPHiA DDM™ Platform.
Discuss the future of research and healthcare institutions to harness NGS data for quick, robust, and actionable insights, guiding best decisions.
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:
Whole-exome sequencing (WES) is widely used in both clinical and research settings, but current implementations require trade-offs between genomic breadth, sensitivity, and workflow complexity. As a result, labs typically maintain multiple assays to meet different kinds of testing.
In this GEN webinar, Guilherme Yamamoto, MD, PhD, and Sevana Yaghoubian will present a novel whole-exome assay for detecting high-confidence variants across multiple applications. Using examples from rare diseases, newborn and carrier screening, and targeted analysis for cardiovascular, neurological, ocular, and metabolic disorders, they will explore how combining targeted probe enhancements with robust analytics improves performance in challenging genomic regions. They will also discuss how these enhanced exome assays can extend beyond germline testing through secondary screening for common somatic variants in hematologic cancers. Key takeaways from the webinar include:
Speakers:
Guilherme Yamamoto, MD, PhD
Head of Genomics and Bioinformatics Innovation
Dasa
Sevana Yaghoubian, MSc
Senior Director Genomics
SOPHiA GENETICS
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
Watch on-demand the webinar “Maximizing Efficiency: Implementing an Enhanced Exome Solution Across Multiple Indications”, where Dr. Eirikur Briem, Head of Department of Genetics and Molecular Medicine at the Landspitali University Hospital in Iceland presents his institute’s experience in implementing the SOPHiA DDM™ Enhanced Exome Solutions.
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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