Bioinformatician (Fixed Term) - Cambridge, United Kingdom - University of Cambridge

University of Cambridge

Verified Company

Cambridge, United Kingdom

1 week ago

Posted by:

Tom O´Connor

beBee Recruiter

Description

An opportunity has arisen for a bioinformatician to work on the INTREPID project which is funded by a Wellcome Trust Collaborative Award in Science entitled 'Primary Immunodeficiency (PID): mechanism and diagnosis via integrative clinical immunogenomics' (PI Prof Ken Smith).

In a pilot study, combining clinical and genetic knowledge from 886 PID patients revealed novel monogenetic causes of sporadic PID, aiding diagnosis.

The present Wellcome Trust Award extends the approach used in the pilot study across an expanded cohort of 2000 PID patients, combining genetic, clinical, cellular and molecular measurements to characterise the molecular events that are responsible for specific forms of PID.

The post-holder will organise, analyse and interpret whole genome sequencing, flow cytometry and metabolomics data, developing tools, relational databases and bioinformatic under the primary supervision of Dr Chris Wallace and Prof Ken Smith, with support from Prof Ernest Turro.

They will be a key member of the multidisciplinary team (MDT), processing genetic data and prioritising variants for consideration at MDT meetings and developing systems to generate clinical reports after the meetings.

The post-holder will also support work being carried out by the research groups involved in the delivery of the project.

Fixed-term: The funds for this post are available until 31 August 2025 in the first instance.

Closing Date: 8th January 2023

Interview Date:
to be confirmed

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