BGI Genomics Launch Clinical Research Whole Exome Sequencing and Interpretation Service Using Congenica Clinical Decision Support Platform

BGI Genomics Launch Clinical Research Whole Exome Sequencing and Interpretation Service Using Congenica Clinical Decision Support Platform

BGI Genomics has today announced that it has launched a clinical research whole exome sequencing solution coupled with industry-leading clinical interpretation services from Congenica. Marketed as ‘BGI-Xome’, sequencing will be conducted at BGI Genomics’ service laboratories while interpretation will be completed by certified clinical scientists using the Congenica™ clinical decision support platform, trusted by Genomics England and the NHS Genomic Medicine Service.

The Congenica interpretation platform leverages proprietary datasets, knowledgebase and deep clinical expertise to enable the BGI Whole Exome service to provide a gold-standard and cost-effective solution which eliminates the risk of disease associated mutations being missed or misreported.

“By combining BGI Genomics’ exome sequencing cost and quality advantages with Congenica’s world-leading interpretation platform and clinical expertise, we will be able to offer partners across the world access to a trusted, premium clinical research whole exome service that supports diagnostic confidence, at extremely accessible pricing”, commented Ning Li, Vice President of BGI Group.

Dr David Shan, BGI Genomics’ Head of Global Sales for Clinical Genetics, added: “Researchers and physicians will be able to use this new clinical research exome sequencing service to increase diagnostic yield, make more targeted healthcare interventions and to improve patient outcomes”.

Dr Paul Denny-Gouldson, Congenica’s Chief Commercial Officer, commented: “The Congenica clinical decision support platform is internationally recognized as a best-in-class solution for genomic data interpretation, trusted globally by physicians and scientists in institutes such as the New York Genome Center and the NHS Genomic Medicine Service. We are delighted to extend patient access to rapid, reliable and actionable exome interpretation with BGI Genomics”.

About BGI

  • BGI Genomics provides a wide range of next generation sequencing services and a broad portfolio of genetic tests for medical institutions, research institutions and other public and private partners.
  • BGI’s mission is to leverage its genomics expertise in order to advance life science research and improve human health for the benefit of mankind.
  • Numerous scientific partners, healthcare providers and pharmaceutical companies have come to rely on BGI’s world leading bio-informatics research and development, large scale computing infrastructure for data output and storage, and proprietary sequencing platforms.
  • BGI is headquartered in Shenzhen, China, with branches and medical laboratories in major cities including Beijing, Tianjin, Wuhan, Shanghai and Guangzhou. BGI also has offices and laboratories located in Europe, North America and the Asia Pacific region.
  • BGI currently operates in more than 100 countries and regions and works with more than 3000 medical institutions and more than 300 hospitals.

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About Congenica

Congenica is the provider of the world’s leading diagnostic decision support platform and associated clinical services for the interpretation of complex genomic data.

80% of rare diseases are thought to have a genetic component, and patients wait an average of 4.7 years, and typically see 7.4 different clinical specialists, before getting a diagnosis. Congenica software enables clinicians to progress through workflows more quickly, optimizing throughput of patients, number of patients diagnosed and reducing costs.

Headquartered in Cambridge, UK, and with an increasingly global footprint, Congenica is born out of pioneering research from the Wellcome Sanger Institute and the NHS. Congenica is a partner for the pivotal Genomics England 100,000 Genomes Project.

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