About the role
We are looking for a Bioinformatics Analyst to join our growing Innovation team to support an exciting Innovate UK project that we’ve received funding for. You will help develop analysis pipelines and tools that will revolutionize the delivery of medical genetics services. Your software and analyses will be used by clinicians and pharmacists worldwide, guiding therapy, helping make clinical decisions, and ultimately help find cures and save lives. Finding new ways to help identify genetic variation of clinical significance and present them clearly is the key goal of the Innovation team. This contract will be for 18 months.
Who we are
Congenica is a pioneering digital health company enabling genomic medicine, revolutionizing the way genetic diseases are characterized and diagnosed, and providing life-changing answers. Our end-to-end solutions, from sample to report, enable you to deliver world-class genomic medicine services and make important clinical decisions that transform the lives of patients and their families.
What will you be responsible for?
- You will primarily be responsible for supporting analysis of an Innovate UK project implementing pharmacogenomics.
- You will be responsible for conceiving, designing and prototyping new genomic data analysis algorithms and pipelines.
- This may include incorporation of third-party software tools or writing of novel software to solve problems. Creative solutions for common bioinformatics or clinical problems that improve our product are always encouraged.
- Liaising with the Clinical and Product Teams, customers and external experts to define requirements for development planning.
- Working with our Development team to construct analytical tools and pipelines to exploit the developments at scale.
- Evaluation of new third-party tools and algorithms to ensure they are of the highest standard.
- As a company we engage in collaborative projects with a small but growing number of academic and commercial partners; analysis and processing of collaborator and customer data will be part of this role.
- Produce presentations, write documentation, and white papers as needed by the company.
- Review and maintenance of reference data sets.
What knowledge, skills and abilities will you need to succeed in this role?
- Either: Degree in Biological or Medical Science with demonstrable programming skills,
- or: Degree in Computer Science with some postgraduate biology or bioinformatics training.
Knowledge, Skills & Abilities
- Good understanding of the principles of human genetics.
- Programming ability in Python and R, with experience using third-party bioinformatics modules and libraries (e.g. numpy, pysam, Bioconductor).
- Experience with SQL databases including bulk data entry, query, and schema design.
- Knowledge of a variety of NGS data manipulation tools.
- Knowledge of variant calling and annotation tools, e.g. GATK, VEP.
- Experience in the Unix/Linux environment.
- Software development in a team environment.
- Self-motivated and results-driven, problem-solver.
- Friendly, approachable and builds positive personal and organisational relationships.
- Excellent written and verbal communication.
- Enthusiastic, hardworking, well organised and able to prioritise. Self-driven to learn new skills and knowledge.
- Enthusiastic to share knowledge and skills within the team.
Great to haves
- Ph.D in relevant discipline.
- Knowledge, Skills & Abilities
- Experience of working with clinical data.
- Application of statistical methods to data analysis.
- Version control tools e.g. git.
- Awareness of Agile software development principles.
- Knowledge of other languages such as Perl, Java, C/C++.
- Cloud computing technologies including Docker and Kubernetes.
- Broad knowledge of related bioinformatics resources and databases.
- Human variation analysis, e.g. population genetics or GWAS, or an area with specific application to variant interpretation.
- Software development in an accredited environment.
- NHS experience.
Congenica is dedicated to creating a diverse environment and is proud to be an equal opportunity employer. All qualified applicants will receive consideration for employment without regard to race, colour, religion, gender, gender identity or expression, sexual orientation, national origin, genetics, disability, age, or veteran status.
If this sounds like you and you’d like to join a growing company, then apply now!