Diagnostic whole genome sequencing for rare diseases: Q&A with Dr Stephen Kingsmore (Part 1)

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As President & CEO of Rady Children’s Institute for Genomic Medicine, Dr Stephen Kingsmore plays a key role in driving access to diagnostic whole genome sequencing (WGS) services for children with symptoms of genetic disease. In this Q&A with Will Greene, Healthcare Engagement Lead for Roche Diagnostics Asia Pacific, Dr Kingsmore discusses how the institute provides rapid diagnostic WGS services to approximately 90 children’s hospitals across North America. He also shares insights on the technology trends that are making these services more powerful and cost-effective, and their potential impact on the practice of laboratory medicine. 

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การวิเคราะห์หาลำดับRED 2020Rare Diseases
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