Bioinformatician

Salary: £33,966 to £44,263 per annum

Newcastle University is a great place to work, with excellent benefits . We have a generous holiday package; plus the opportunity to buy more, great pension schemes and a number of health and wellbeing initiatives to support you.

Closing Date: 02 April 2024

The Role

The principal purpose of this role is to provide bioinformatics leadership and support to the Newcastle NHS Highly Specialised Mitochondrial Diagnostic Laboratory, based within the Wellcome Centre for Mitochondrial Research (WCMR) in the Faculty of Medical Sciences, Newcastle University.

You will drive, coordinate and support informatics analysis across a broad portfolio of projects in the laboratory which is integrated into NHS Genomic Service delivery as a part of the North East and Yorkshire Genomic Laboratory Hub. Professor Rob Taylor (Head of Laboratory) and Dr Emma Watson (Deputy Head of Laboratory) are leads of a Work package within the NHS Genomic Network of Excellence for Rare and Inherited Disease, which is funded for two years to drive research activity into new and improved diagnostic tests within the national Genomic Medicine Service and accelerate access the genomic medicine in the NHS (https://www.england.nhs.uk/long-read/accelerating-genomic-medicine-in-the-nhs/ ).

Partnering with academic colleagues in the UK, the Mitochondrial Highly Specialised Service teams in Oxford and London and Genomics England you will develop, test and maintain novel analytical pipelines for diagnosing mitochondrial disease from short-read and long-read whole genome sequencing data, to deliver a national strategy for accurately call and reporting clinically actionable mitochondrial DNA sequence variants.

Alongside this, and in the context of activity within the Academic Centre, you will also support researchers using multidimensional datasets, including whole exome and genome sequencing, RNA sequencing, proteomic and metabolomic data from patient-derived pathological samples and experimental models, with the goal of improving our understanding of mitochondrial biology and disease mechanisms and contributing to work aimed at developing novel therapies.

We are looking for a dynamic individual with a strong background in bioinformatics to join our 20-strong NHS Highly Specialised Diagnostic Laboratory team (http://www.newcastle-mitochondria.com ), working with colleagues across the Centre who have an international reputation for their expertise in understanding the health-related outcomes of mitochondrial disease, associated disease mechanisms and development of novel therapies.

You should have a proven track record (evidenced by publications and/or experience in a previous role) and show an enthusiasm and intellectual curiosity to apply a broad range bioinformatics tools and pipelines to understanding mitochondrial disease progression and complexity. 

This post provides an exciting opportunity for an individual with bioinformatics expertise.

Candidates should attach a statement to their application that describes their research interests and, in particular, highlights their relevant experience.

This full time post is offered on a fixed term basis until 31 March 2026.

You will work closely with Professor Rob Taylor ([email protected] ) and Dr Emma Watson ([email protected]) ,  to whom informal enquiries can be made.

Find out more about the Faculty of Medical Sciences here: https://www.ncl.ac.uk/medical-sciences/

Find out more about our Research Institutes here: https://www.ncl.ac.uk/medical-sciences/research/institutes/

As part of our commitment to career development for research colleagues, the University has developed 3 levels of research role profiles . These profiles set out firstly the generic competences and responsibilities expected of role holders at each level and secondly the general qualifications and experiences needed for entry at a particular level.

Key Accountabilities

• To develop, enhance and participate in the delivery of genomic testing across the laboratory, specifically the design of protocols, subsequent analysis and the interpretation of informatic outputs relating to mitochondrial DNA sequence variation from Whole Genome Sequencing datasets. This will also involve collaboration with researchers across the Wellcome Centre team, other academic mitochondrial researchers and their teams, Genomics England and the wider Highly Specialised Mitochondrial Laboratory network
• To develop and maintain novel computational pipelines for the analysis of next-generation sequencing data (genomic, transcriptomic and epigenetic) and high-dimensional proteomic data (deep phenotyping) derived from cutting-edge WCMR projects
• To provide support and informatic guidance for the bioinformatic analysis of publicly available ‘omics’ datasets (i.e. Genomics England and UKBiobank) and to assist in the development of research projects using this data
• The post-holder will be encouraged and mentored to develop their own, independent research areas which align with the Centre strategies, vision and team working
• Regularly appraise and test new software and tools to ensure that the sequencing and proteomic data analysis, annotation and interpretation pipelines are up-dated effectively
• Maintain a high level of up-to-date specialist knowledge of bioinformatics, by reading relevant journals and participating in relevant conferences, so as to support WCMR in making strategic decisions on computational infrastructure purchases and upgrades
• Liaise with local IT departments (NHS and University) to effectively adapt hardware to meet user demands – processing power and data storage etc. and safeguard the reliability and validity of data at all stages of analysis using appropriate quality control and version control procedures and the practice of reproducible research
• Any other duties within the remit of the grade as required by the Head of Academic Unit

The Person 

Knowledge, Skills and Experience 

• Experience working with a Unix/Linux HPC computing environment, with experience in relevant/current programming languages (i.e. Python etc)
• Experience accessing and utilizing external, publicly available datasets (i.e. Genomics England 100k data, UKBioBank and EBI)
• Experience analysing, visualizing and annotating high throughput sequencing or proteomics data sets and disseminating this data to non-informatic researchers
• An in-depth specialist understanding and interest in evaluation and possible acquisition of the latest breakthrough technologies in bioinformatics and computational biology, alongside a grounded, theoretical, knowledge of genetic, cell and molecular biology
• Experience of work as a bioinformatician in a research setting
• Relevant IT experience

Desirable

• Experience with a programming language for application development
• Proficiency using statistical packages (i.e., R)
• Experience of working with mitochondrial DNA sequences, and knowledge of mitochondrial genetics
• Experience working with large volume data sets (e.g., differential gene expression, exome or genome sequencing).
• Direct experience of single cell transcriptomic, epigenetic, proteomic and genomic datasets.
• Knowledge of SQL databases, web development.
• Knowledge of LIMS design and implementation.
• Evidence of contributing to successful applications for national/international peer reviewed research funding
• Evidence of completed research and publications in peer reviewed journals
• Experience in the design and analysis and delivery of research projects

Attributes and Behaviour

• Excellent interpersonal and communication skills (both written and oral) to be able to work alongside individuals with different levels of technical knowledge
• Keep up to date with new / improved bioinformatics knowledge, skills, techniques and research
• High level of motivation and initiative
• Excellent organisational skills
• Strong team player
• Creative problem solving
• Strong attention to detail
• Ability to work flexibly
• Ability and willingness to travel locally and within the UK for meetings and conferences

Desirable

• Knowledge and understanding of the regulatory framework and good research practice underpinning research
• Understanding of health and safety regulations and procedures within a higher education environment
• Outline understanding of UK research funding procedures

Qualifications

• Relevant Bioinformatics experience in a scientific and/or technical role, preferably with postgraduate degree level (e.g., MSc.) training in bioinformatics or equivalent qualifications
• A PhD due to the opportunity to engage with and develop academic endeavour through this post

Newcastle University is a global University where everyone is treated with dignity and respect.  As a University of Sanctuary, we aim to provide a welcoming place of safety for all, offering opportunities to people fleeing violence and persecution.

We are committed to being a fully inclusive university which actively recruits, supports and retains colleagues from all sectors of society.  We value diversity as well as celebrate, support and thrive on the contributions of all of our employees and the communities they represent.  We are proud to be an equal opportunities employer and encourage applications from individuals who can complement our existing teams, we believe that success is built on having teams whose backgrounds and experiences reflect the diversity of our university and student population.

At Newcastle University we hold a silver Athena Swan award in recognition of our good employment practices for the advancement of gender equality.  We also hold a Race Equality Charter Bronze award in recognition of our work towards tackling race inequality in higher education REC.  We are aDisability Confident employer and will offer an interview to disabled applicants who meet the essential criteria for the role as part of the offer and interview scheme.

In addition, we are a member of the Euraxess initiative supporting researchers in Europe. 

Requisition ID: 26734