GEMINI (Genomic Medicine Initiative) clinical exome sequencing in practise

GEMINI (Genomic Medicine Initiative) clinical exome sequencing in practise

Dr Howard Martin, Cambridge University Hospitals NHS Foundation Trust
Topic: Human Genetics & Genetic Disease : Customer

Cost effective tests with a standardized, efficient workflow are required for clinical laboratories with a vision to implement next generation sequencing.  In the past, a major hurdle to overcome was the significant resources required to design, test and validate multiple, evolving sequencing panels. 

Join this webinar to hear from Dr Howard Martin of Cambridge University Hospitals NHS Foundation Trust (under the direction of Prof. Steve Abbs), on how their laboratory has implemented a single test which sequences more than 4800 clinically relevant genes, while combining the benefits of both targeted gene and WES (whole exome sequencing) approaches.  At lower cost, this single sequencing test is both versatile and simple, with mutation detection rates comparable to full exome sequencing and coverage over a wide range of rare genetic diseases.



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