Bioinformatician - Research Services

7 months ago

London, United Kingdom Genomics England Full time

**Company Description**
Genomics England partners with the NHS to provide whole genome sequencing diagnostics. We also equip researchers to find the causes of disease and develop new treatments - with patients and participants at the heart of it all.

Our mission is to continue refining, scaling, and evolving our ability to enable others to deliver genomic healthcare and conduct genomic research.

We are accelerating our impact and working with patients, doctors, scientists, government and industry to improve genomic testing, and help researchers access the health data and technology they need to make new medical discoveries and create more effective, targeted medicines for everybody.

We are looking for a Bioinformatician to provide high calibre research services to external researchers and industrial partners. The post-holder will enable and conduct analysis, facilitate access to datasets, and ensure optimal use of the Genomics England Research Data Centre.

In this role, you will work with researchers from academia and industry to help answer their research questions and ensure their scientific projects are impactful and successful.

You will also support our users in working with our data and contribute to data generation to ensure that they have an excellent customer experience.

The role includes elements of both a bioinformatician and a data analyst.

**Everyday responsibilities include**:

- Analysis of large-scale whole genome sequencing data and linked clinical data using bioinformatics tools and pipelines.
- Identify gaps in our data and analysis offering and providing these insights to internal stakeholders to feed into company strategy.
- Proactively enable research through the development of bespoke code, workflows, datasets, and/or guidelines.
- Writing of documentation and instructional materials on accessing data and running analyses in the Trusted Research Environment.
- Providing second line research support for researchers in querying genomic and clinical data and running bespoke analyses on demand.

**Skills and Experience for Success**
- Strong background in human disease genetics, preferably in cancer or rare disease, demonstrated by publication record or industry track record.
- Strong coding skills in scripting languages (Python/R).
- Experience using statistical genetics tools, e.g. for association analysis, fine-mapping or colocalisation.
- Demonstrable experience in working with whole genome/whole exome sequencing data at scale.
- Experience writing pipelines in WDL or Nextflow
- Proven ability to communicate with stakeholders from diverse backgrounds (e.g. management, IT, R&D, biology, bioinformatics) and a clear understanding of clinical and phenotypic data management and the sensitivities surrounding patient cohort data.
- Excellent interpersonal skills, keeping track of customer relationships, providing high calibre troubleshooting, identifying unmet customer needs and suggesting solutions to improve material.
- Motivation to enable genetic discovery and connect genetic variation to human disease in close collaboration with like-minded colleagues.
- Experience with the analysis of transcriptomics, proteomics or other omics a plus

**Qualifications**
Educated to MSc level (or higher) with experience of academia/industry

**Additional Information** Salary from £48,500**

Being an integral part of such a meaningful mission is extremely rewarding in itself, but in order to support our people, we’re continually improving our benefits package. We pride ourselves on investing in our people and supporting them to achieve their career goals, as well as offering a benefits package including:

- 30 days’ holiday (plus bank holidays), with additional days for long service awards
- A generous pension scheme of up to 15% combined contribution
- Life Assurance (3 x salary)
- Individual learning budgets for every colleague, a Blinkist account and a wide variety of courses on our portal
- A wide variety of wellness benefits including Gympass, a Headspace account, free weekly Yoga classes
- Enhanced maternity & paternity benefits
- Blended working arrangements

Talk to our Talent Team and find out how a career with Genomics England will benefit you.

LI-Hybrid

Genomics England is actively committed to providing and supporting an inclusive environment that promotes equity, diversity and inclusion best practice both within our community and in any other area where we have influence. We are proud of our diverse community where everyone can come to work and feel welcomed and treated with respect regardless of any disability, ethnicity, gender, gender identity, religion, sexual orientation, or social background.

Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work. Such behaviour is contrary to our virtues, undermines our mission and core values and diminishes the dignity, respect and integrity of all parties.

Genomics England operates

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