What you’ll be doing
You will help develop analysis pipelines and tools that will revolutionize the way medical genetics work. Your software will be used by clinical geneticists and genetic researchers worldwide; it will help make clinical decisions and provide diagnoses, and ultimately help find cures and save live. Finding new ways to help identify pathogenic mutations and present them clearly is the key goal of the bioinformatics team.
Who we are
Congenica is a digital health company developing the gold standard in genomic interpretation platforms for accelerating analysis of rare diseases from genomic data. Simply put, we develop and operate a web-based service to accelerate the interpretation of complex genetic information with the goal of providing life-changing answers for individuals and their families.
What will you be responsible for?
- You will be responsible for creating, developing and improving automated genomic data analysis pipelines to operate at large scale (10,000’s samples per year).
- This may include implementation of 3rd party software tools or writing of novel software to solve problems. Creative solutions for common bioinformatics or clinical problems that make our software and service better are always encouraged.
- Liaise with the Clinical Team, customers and external experts to define requirements for development planning.
- Quality is key to our work so developing quality metric analytics and reporting is important to ensuring our customers have confidence in our analyses.
- Any new tools or feature need to be supported by measures to ensure they are of the highest standards.
- As a company we engage in collaborative projects with a small but growing number of academic and commercial partners.
- Analysis and processing of collaborator/customer data is expected to be part of this role.
- Review / maintenance of reference data.
What qualifications, skills and experience do you need to be successful in this role?
- Degree in Computer Science with some post-grad biology or bioinformatics training or
- Degree in Biological Science / Medical subject with demonstrable programming skills or
- Equivalent experience
Knowledge, Skills & Abilities
- Programming ability in Python or Perl,
- Interaction with SQL databases such as bulk data entry, query, schema design and ORM
- Knowledge of a variety of NGS data manipulation tools
- Unix environment
- Awareness of software development principles
- Friendly, approachable and builds positive personal and organisational relationships
- Self-motivated and results-driven, problem-solver
- Enthusiastic, hardworking, well organised and able to prioritise
- Able to work with others, and willing to contribute to team
- Attention to detail and an inquisitive nature
Great to haves
Knowledge, Skills & Abilities
- Variety of other languages, eg R, Java, C/C++
- Knowledge of variant calling and annotation tools.
- Application of statistical methods to data analysis
- Experience of working with clinical data
- Version control tools eg Git
- Broad knowledge of related resource and databases
- Experience of working in an agile environment
- Human variation analysis or an area with specific application to variant interpretation
- Software development in an accredited environment
- Some experience of non-research academic work
- 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 new team and growing company then apply now!