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SOPHiA GENETICS
Rare and Inherited Diseases
  • On-demand
    At SOPHiA GENETICS, we collaborate with genetic experts to develop specialized next-generation sequencing (NGS) applications that seamlessly integrate into any laboratory workflow. Today, our partners share how the analytical technology and dedica...
  • On-demand
    Pessoas reais, impactos reais. Assista a uma apresentação imperdível sobre como SOPHiA DDM™ otimiza a análise de exomas e painéis direcionados, inclusive no caso de doenças pediátricas raras. A apresentação será feita pela nossa cliente, Dra. Oliv...
  • On-demand
    Over the past decade, next-generation sequencing (NGS) has emerged as a comprehensive and cost-effective tool for the diagnosis and research of rare diseases. It is well known that mutations in nuclear DNA can cause a range of human diseases, with...
  • On-demand
    Ce webinar illustre l'apport complémentaire du séquençage moléculaire dans le cas d’un enfant de 15 ans, présentant une agénésie dentaire associée à des anomalies génitales.

    Initialement un diagnostic d'oligodonties est suspecté. L'identification...
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    On-demand
    This corporate satellite was presented live at ESHG 2021 on August 28th, 2021.

    Next-Generation Sequencing (NGS) is rapidly improving research efforts for rare and inherited diseases. The adoption of exome sequencing helps determine the variations...
  • On-demand
    Over the last decade, whole-exome sequencing has emerged as a comprehensive and cost-effective tool for researching rare disease-causing variants, including copy number variants (CNVs). As a result, researchers can gain extensive, valuable informa...
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    On-demand
    Las variaciones en el número de copias (CNV) del ADN son una causa bien documentada de enfermedad genética humana. La detección de CNV es un reto ya que las soluciones analíticas deben alcanzar una resolución a nivel de exón para ofrecer resultado...
  • On-demand
    This scientific evidence-webinar will discuss Genotypos Science Labs’ experience with a whole exome sequencing solution, supporting the detection of copy number variants for the management of a complex cases. DNA copy number variations (CNVs) are ...
  • On-demand
    DNA copy number variations (CNVs) are a well-documented cause of human genetic disease. The detection of CNVs is challenging because analytical solutions must offer exon-level resolution for accurate results.

    Whole exome sequencing (WES) is inc...
  • Thursday, September 17, 2020 · 5:00 PM CEST
    A major challenge in the era of precision medicine is to ensure quick and reliable identification of potentially disease-causing genetic variants with a streamlined workflow. 

    This webinar will focus on how SOPHiA GENETICS overcomes these challe...
BioPharma
SOPHiA GENETICS (Nasdaq: SOPH) is a healthcare technology company revolutionizing data-driven medicine and life sciences research. Their flagship product, the SOPHiA DDM™ Platform, empowers over 750 global institutions with cloud-based analytics and insights from diverse diagnostic datasets.