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Date(s) - 11/06/2015
4:00 pm - 5:00 pm

SGDP Seminar Room


Dr Ernest Turro

Senior Research Associate, Platelet Biology Group, University of Cambridge

Identifying the genetic determinants of rare disorders using deep phenotyping and genome sequencing 

Rare diseases are often polysymptomatic and can be caused by many different genetic variants or combinations thereof. This phenotypic and genetic heterogeneity makes it challenging to identify the causes of disease. A number of rare variant association tests have been developed to address genetic heterogeneity but the response is usually a single quantitative or binary variable. The Human Phenotype Ontology (HPO) is often a more appropriate phenotype coding system for rare diseases because it can capture phenotypic abnormalities across many different organ systems with a flexible level of detail.

I will give examples of how we are using HPO coding and genome sequencing to uncover the causes of bleeding and platelet disorders (BPD), which comprise a heterogeneous collection of often syndromic diseases. The BPD project is part of the BRIDGE Consortium, which is sequencing 10,000 whole genomes as part of the Genomics England 100,000 Pilot project. I will describe a novel statistical HPO-based method we call “phenotype similarity regression”, which might prove useful in the context of other classes of rare disease.

This talk will be followed by a wine reception.

For enquiries about the seminar or series, please contact sgdpbrcseminars@gmail.com.

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