JOB DESCRIPTION
Job Title:
Bioinformatics Research Associate
Institute:
National Heart and Lung Institute
Section:
Cardiovascular Science
Job Family/Level:
Academic and Research, Level B
Salary Range:
£32,750 - £41,540 per annum
Responsible to:
Dr Elizabeth Edwards, Bioinformatics Project Manager
Key Working Relationships
(internal):
Accountable to Dr Paul Barton, Genetics Research
Manager
Works closely with Genetics & Genomics Research &
Diagnostic Lab personnel
Location:
Royal Brompton Campus
Contract:
Full-time, fixed-term for 3 years
The Purpose of the Post
Applications are invited for a Bioinformatician Research Associate based at the Royal
Brompton Campus. This is a key post to join an exciting and expanding team
implementing next generation DNA sequencing (NGS) for the genetic diagnosis of
cardiomyopathy and funded through a £1.4 million Health Innovation Challenge Fund
award. You will drive the development of molecular diagnostics for cardiovascular
disease from a bioinformatics perspective and have the opportunity to be involved in
other genomics research programmes.
You will take responsibility for leading on the translation of the NGS annotation and
mutation detection analysis pipelines from the research environment into the
diagnostic setting, this includes validation, interpretation and collation of mutations,
report generation and software development. There will be an emphasis on ensuring
governance workflows are identified, followed and appropriate SOPs devised and
implemented.
Key Responsibilities:
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Leading on the development and implementation of automated pipelines and
methods for NGS data annotation, mutation detection and report generation
to standards required for a diagnostic service
Lead on the validation and quality control of analysis methods for mutation
detection and annotation in a diagnostic setting, ensuring reliability of data at
all times
Lead on the development of and adherence to systems, Standard Operating
Procedures and policies from an informatics perspective to meet clinical
governance requirements for a diagnostic service
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Update and curate annotation resources in use by the Genetics & Genomics
Laboratory
Development of the Genetics & Genomics Laboratories data warehousing
solution to accommodate diagnostic services
Implementing the Genetics & Genomics Laboratory data management and
data retention policies, ensuring integrity of data at all times in line with
clinical requirements
Development of software tools to mine and visualise genomics data aligned to
the needs of the Genetics & Genomics Laboratory diagnostic service
Actively participate in the research programmes of Genetics & Genomic
Laboratory, collate data and write manuscripts for publication to disseminate
results
Ensure all work activities are documented appropriately
To take initiatives in the planning of research
To direct the work of small research teams
To identify and develop suitable techniques, and apparatus, for the collection
and analysis of data
To conduct data analysis
To ensure the validity and reliability of data at all times
To maintain accurate and complete records of all findings
To write reports for submission to research sponsors
To present findings to colleagues and at conferences
To submit publications to refereed journals
To provide guidance to staff and students
To attend relevant workshops and conferences as necessary
To develop contacts and research collaborations within the College and the
wider community
To promote the reputation of the Group, the Department and the College
To provide guidance to PhD Students
To conduct and plan own scientific work with appropriate supervision
To maintain highly organised and accurate record of experimental Work
To actively participate in the research programme of the Group and Unit
To publish in high quality journals and to present data at national and
international meetings
To participate in Group/Unit research meetings and internal seminars
To collaborate with other allied scientists within Imperial College and
elsewhere in London and abroad, as appropriate
To contribute to the smooth running of the Group’s/Unit’s laboratories and,
facilities with other scientists, clinicians, technicians and students within the
laboratories
Assist in the supervision of undergraduate and postgraduate research
students and research assistants as required
To comply with the College, Division, and Unit safety practices and to attend
courses on safety when appropriate
Any other duties as may be deemed reasonable by Head of group as well as
Head of Division/Department/Section
Other Duties
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To undertake appropriate administration tasks
To attend relevant meetings
To undertake any necessary training and/or development
To observe and comply with all College policies and regulations, including the
key policies and procedures on Confidentiality, Conflict of Interest, Data
Protection, Equal Opportunities, Financial Regulations, Health and Safety,
Imperial Expectations (for new leaders, managers and supervisors),
Information Technology, Private Engagements and Register of Interests, and
Smoking.
To undertake specific safety responsibilities relevant to individual roles, as set
out on the College Website Health and Safety Structure and Responsibilities
page
(http://www3.imperial.ac.uk/safety/policies/organisationandarrangements).
Job descriptions cannot be exhaustive and the post-holder may be required to
undertake other duties, which are broadly in line with the above key
responsibilities.
Imperial College is committed to equality of opportunity and to eliminating
discrimination. All employees are expected to adhere to the principles set out
in its Equal Opportunities in Employment Policy, Promoting Race Equality
Policy and all other relevant guidance/practice frameworks.
IMPERIAL COLLEGE LONDON
PERSON SPECIFICATION
Applicants are required to demonstrate that they possess the following attributes.
Education and Qualifications
Essential
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PhD ideally in Bioinformatics or computer sciences, with good knowledge of
genetics and genomics
Skills in software development, database design and construction
Knowledge
Essential
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Knowledge of genetics and genomics
Excellent knowledge of NGS bioinformatics techniques and related software
Knowledge of annotation and mutation detection resources and tools
In-depth knowledge of programming languages to include a scripting, object
orientated, database and statistical language such as Perl, Java, MYSQL & R.
Knowledge of working within a Linux/Unix computing environment and High
performance computing (HPC)
Knowledge of publically available bioinformatics resources and databases
Knowledge/understanding of clinical governance within a diagnostic setting
advantageous.
Proven publication record in peer-reviewed journals
Experience in a diagnostic laboratory advantageous
Computer literate with a good knowledge of different computer programs with
experience in data presentation and statistical analyses
Desirable
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Knowledge of statistics
Competencies, Skills and Abilities
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Proven competency in analysing NGS data and utilising bioinformatics
techniques and related software.
Experience in developing NGS bioinformatics pipelines
Ability to validate and benchmark NGS methods/pipeline performance
Experience of target enrichment assay development
Experience in developing databases for integrating data, reporting and data
analysis
Experience of software and web development
Experience of contributing to manuscripts for publication in peer reviewed
journals.
Ability to communicate articulately and concisely in both written and oral
situations
Experience of working effectively in collaborative research projects and cross
disciplinary teams
Ability to curate and annotate biological data
Ability to follow and develop SOPs where appropriate
High attention to detail
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Ability to exercise initiative
Ability to relate appropriately to others
Ability to direct the work of a small research team and motivate others to produce
a high standard of work
Ability to organise own work with minimal supervision
Ability to prioritise own work in response to deadlines
Advanced computer skills, including word-processing, spreadsheets and the
Internet