The bioinformatics for the UK’s 100,000 Genomes Project

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• Dr Augusto Rendon, Director of Bioinformatics and Genome Analysis, Genomics England
• Wednesday 31 May 2017, 13:00-14:00
• Seminar Room, Strangeways Research Laboratory, Worts Causeway, CB18RN.

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In this talk I will give an overview of the UK’s 100,000 genomes project and its current status. I will then focus on two mayor areas from a bioinformatics perspective: data challenges and interpretation in rare diseases. I will discuss how three types of databases are required to enhance genome interpretation and enable research: a large-scale database of genotypes and phenotypes, a database of interpretation findings and a database of genotype to phenotype assertions. I will present the developments we have performed in these areas and discuss some of the remaining challenges. I will then discuss the work we have been doing to support diagnosis in families with rare diseases. I hope that I will be able to convey the immense potential this program has for translating state of the art research into improved patient care and encourage people to join our clinical and academic partnerships.

This talk is part of the Cambridge Cardiovascular Seminar Series series.

This talk is included in these lists:

• Cambridge Cardiovascular Seminar Series
• Cardiovascular Epidemiology Unit Special Seminars
• Seminar Room, Strangeways Research Laboratory, Worts Causeway, CB18RN
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