Job Profile

Core job information
Job Title / Bioinformatician
Dept./School/Inst. / William Harvey Research Institute / Section/Centre/Unit / Clinical Pharmacology
Career Family / Technical / Grade / 4
Working hours per week / Full time / Appointment period / 30 months
Reports to (job title) / Clinical Lead for Genomics England / Current location / Charterhouse Square
Job purpose
  • The post holder will work closely with the, Clinical Lead for the Genomics England 100,000 Genomes Project Cancer Program. The post will involve working on various research analyses related to the 100,000 Genomes Project and GeCIP (Genomics England Clinical Interpretation Partnership).
  • There are two key areas of analyses (1) analysis of whole genome data generated within the 100,000 Genomes Project (2) development of an evolving knowledge management system for classification and clinical interpretation of rare genomic variants linked to disease.
  • The post would suit a flexible, organised, intuitive individual with a broad range of skills in data analysis, bioinformatics, software engineering, database management and web-programming.

Knowledge, Skills & Experience
Requirements / Essential/Desirable
Qualifications / Higher degree (MSc or PhD) in a relevant discipline (eg, computer science, bioinformatics, genetics) / Essential
Experience / Bioinformatics and programming
Processing and analyses of NGS data
Analyses and annotation of genomic variant data
Analysis of whole genome data
NGS analysis of somatic data
Database development using SQL
Web development / Essential
Essential
Essential
Desirable
Desirable
Essential
Desirable
Knowledge and Skills / Programming in one or more of the following environments:Perl, R, Java, C++, JavaScript, XMLBioperl, Bioconductor
Knowledge and experience of bioinformatics resources relevant to genome analysis and interpretation
Tools for alignment, variant calling and analysis of panel/WES/WGS data
SQL programming. Development of MySQL relational databases
Applications for use for web development e.g. Shiny
Excellent interpersonal skills
Excellent verbal and written communication skills / Essential
Essential
Essential
Essential
Desirable
Essential
Essential
Attitude & disposition / Flexible and co-operative
Independent, self-motivated and hardworking
Willingness to learn new skills
Evidence of good team-working / Essential
Essential
Essential
Essential
Other circumstances / Willingness to work flexibly in order to achieve project demands. / Essential
Working Environment
Specific Duties
  • Analysis of whole genome data for discovery and description of new findings. The post holder will undertake analyses of called whole genome data which will include (i) analysis of data from multiplex families with patterns of disease suggesting inherited susceptibility to rare cancer syndromes and (ii) analysis of paired tumour-normal cancer genomes. This work will be in collaboration with Professor Richard Houlston (Institute of Cancer Research) and will be undertaken within the respective disease-related GeCIP domains of the 100,000 Genomes Project.
  • Development of an evolving knowledge management system for classification and clinical interpretation of rare genomic variants linked to cancer susceptibility. The post holder will continue development of an existing knowledge system and web-interface for the classification and clinical interpretation of variants identified in cancer susceptibility genes, development of which has already been initiated ( The post holder will harness input from experts within the Inherited Cancer GeCIP community to augment existing data informing genetic variant classification. The post holder will also work with the central Genomics England Validation and feedback domain to incorporate these data into the centralised Genomics England Knowledgebase. This work will involve wide collaboration, but will work particularly closely with Professor Michael Sternberg (Imperial College, London), with whom we have a collaboration around use of protein modelling to predict variant pathogenicity.
  • The post holder will support the Clinical Lead for the Genomics England in ad hoc data analysis requirements arising from the 100,000 Genome Project.
  • The post holder will support teaching commitments from the centre with respect to bioinformatics for both undergraduate and postgraduate students.
General Duties
  • To maintain appropriate databases, keeping accurate written and computerised records and to ensure that these records are stored in a secure place, and to maintain confidentially of all electronically stored personal data in line with the provisions of the Data Protection Act.
  • To make research initiatives and original contributions to the research programme wherever possible, and to contribute freely to the team research environment in a manner conducive to the success of the research project as a whole.
  • To prepare reports and scientific publications to disseminate results from the programme of research.
  • To attend and participate in the Centre’s academic activities, e.g. laboratory and journal club meetings.
  • To undertake literature searches to explore potential research projects, and to be able to interpret and present the findings of the literature searches and advise the research teams appropriately regarding potential projects.
  • To supervise and train where necessary new members of the research team.
  • To assist in drafting budgets and applications for potential research projects and grants.
  • To keep up to date with scientific, clinical and professional issues, in particular developments in the specific area of bioinformatics.
  • To show a professional attitude, to observe and take an active role in fulfilling all statutory health and safety regulations.
Other
  • The duties of the post outlined above are not exhaustive, and the post holder will be expected to be co-operative and flexible, undertaking such administrative and other duties as may from time to time be reasonably expected of a member of research grade staff in a university.
  • These duties will be subject to review in line with the changing requirements of the Centre, Institute, School or College, and with the development needs of the post holder as identified through regular review/appraisal processes.
  • The post holder must at all times carry out their responsibilities with due regard to the College's equal opportunities policy.
  • This job description sets out the duties of the post at the time it was drawn up. Such duties may vary from time to time without changing the general character of the duties or level of responsibility entailed. Such variations are a common occurrence and cannot of themselves justify a reconsideration of the grading of the post.

  • Freedom to Act & Decision Making

  • Judgements relating to own research activities in bioinformatics.
  • Judgements involving complex facts, some of which require analysis, interpretation and comparison of data from laboratory experiments.
  • To adopt flexible working practices where required.
  • Evaluate new systems/software and makes recommendations on viability

Communication & Networking
  1. Exchange relevant information, relevant to the project both internally and externally: with staff, students, senior management and peers.
Internal
  1. Establish and maintain relationships in order to collaborate with researchers and academics in own team, intra and inter departmental or within the College when necessary.
  2. To work with the following teams.
Clinical Lead for the Genomics England
Genomics England scientific, technical and administrative staff
WHRI Centre Manager
Clinical & Non-Clinical academic, research and technical staff within the WHRI.
Postgraduate and undergraduate students within the Institute.
Academic, research staff and support staff within the SMD and other QM departments.
External
  1. Work with external collaborators as agreed with the line manager/PI
Providing, receiving and presenting complex information to a large group of people.
Finance/Resource Management
  • No budgetary responsibility

People Management
  • No direct line management of staff
  • Supervision and training of new members of staff and students in appropriate bioinformtic techniques, etc.

This job description sets out the duties of the post at the time it was drawn up. Such duties may vary from time to time without changing the general character of the duties or level of responsibility entailed. Such variations are a common occurrence and cannot of themselves justify a reconsideration of the grading of the post.
Organisation Chart