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Title of project

Clinical association of arrhythmia gene variants (coding and non-coding) across the 100,000 Genomes and UK Biobank projects.

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Find out more about this opportunity, including how to apply by clicking the headings below to reveal more information.

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Project details

Sequencing data from large-scale biobanks provide an opportunity to explore the relationship of genetic variants located in Mendelian disease genes with phenotypic data.

This project will utilise whole genome sequencing and clinical data from 100,000 Genomes Project and UK Biobank to examine the association of variants located in major arrhythmia syndromes genes with clinical phenotypes.

Non-coding DNA variants will be analysed to explain the missing heritability in Brugada syndrome, Long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Phenome Wide Association Study (PheWAS) in non-syndromic individuals will be conducted to explore expressivity and pleiotropy of arrhythmia gene variants and understand general population effects of these genes.

Skills to be acquired

The student will learn standard methods and approaches to next generation sequencing , in particular, whole genome sequencing, data manipulation and analysis.

This will include basic programming (bash scripting), using R programming language and its statistical packages. 

The student will get confident with bioinformatics resources and in silico tools for data interpretation and visualisation. 

The work will involve analysis of clinical data from electronic health records, which will require the student to understand database management programming language, e.g. SQL.

Being based at thee SGUL Cardiology Research Centre the student will have the opportunity to learn about the pathology of arrhythmia syndromes from leaders in the filed and to interact with clinical staff to better understand translational impact of the research.

The student will be strongly encouraged to submit abstracts to scientific conferences and participate in relevant symposia, which will help them to develop communication and presentations skills. 

Scientific writing skills will be developed through manuscript preparation for peer reviewed journals. 

Entry requirements

Applicants should normally have an upper second-class honours degree (2:1) of a UK university or an overseas qualification of an equivalent standard obtained after a course of study extending over not less than three years in a university (or educational institution of university rank), in a subject appropriate to that of the course to be followed.

Funding

The successful applicant will receive a stipend for a three-year period and will have their fees paid for them during this time. 

The studentship is open to both Home and Overseas students.  However, please note that,  if the successful candidate is overseas, they will be required to fund the difference between the Home fee rate and the Overseas fee rate. 

For 21/22 the Home rate is £4,500 and the Overseas rate is £25,750 (we do not yet have the figures for later years). 

How to apply

Please send the completed application form (Word) to researchdegrees@sgul.ac.uk by no later than  5pm on 3 September 2021

An equal opportunities form (Word) should also be submitted as a separate document. 

You should ask your referees to complete the reference form (Word) and to submit them to the same email address by the same time, if possible. 

Shortlisting and interviews

Applications will undergo shortlisting and successful applicants will then be invited to interview anytime from 6 September 2021.  However, the main interview day is likely to be on 17 September and is currently planned to be held online.

The successful candidate will be given a verbal offer and once it has been accepted, will be sent a formal offer letter and a registration pack with joining information. 

Unsuccessful candidates will be contacted with their outcomes at the earliest opportunity and will be able to request feedback if required. 

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