Genomics Data Scientist - Research Services

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 Genomic Data Scientist to join our Bioinformatics Consulting team at Genomics England and work on a range of genome analysis and interpretation projects with an emphasis in rare or complex disease, in collaboration with and on behalf of our external researchers and industrial partners.
In this role, you will work as part of a multidisciplinary team and help develop and execute cutting edge projects that leverage Genomics England datasets to address a broad set of research goals such as drug target identification and patient stratification.
As part of consultancy projects, you will contribute in scoping and implementation of state-of-the-art methods for analysis of genomic and other omics modalities.
Being a superuser of our datasets and our research environment, you will help develop and fine-tune tools and pipelines to perform custom computational analyses, generate new data and contribute to high quality reports and documentation.
Everyday responsibilities include:
Performing custom computational analyses on whole genome sequencing and other omics datasets, such as genome-wide association studies, aggregate variant association testing, meta-analysis, transcriptome-wide association studies, fine-mapping and MR.
Preparation of data for downstream analysis, e.g.
through quality control, functional annotation, harmonisation across different datasets.
Researching the scientific literature, identifying new approaches to genome analysis, as well as contributing to the publication and dissemination of our learnings in the form of scientific papers, white papers and conferences.
Providing support to internal teams and commercial clients and being the point of reference for genomic datasets and analytical approaches.
Benchmarking and improving tools for processing and analysis of whole genome sequencing data.Skills and Experience for Success Strong programming skills (R, Python) and knowledge of statistical genetics.
Demonstrable experience in using next generation sequencing data in the context of human genetics.
Strong background in human disease genetics, preferably in rare or complex disease, demonstrated by publication record or industry track record.
Demonstrable experience in one or more areas of human germline DNA analysis such as genetic association testing, population genetics, pharmacogenomics, rare disease genomics, risk score prediction, structural variation analysis, working with complex genomic regions such as HLA/KIR.
Experience with working in the cloud, building containers, and running pipelines in 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 or analytical approaches.
Qualifications A PhD involving one of the following:
Rare Diseases, Cancer Bioinformatics, Computational Biology, Systems Biology, Statistical Genetics or equivalent work experience, Additional Information Salary from £55,000 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 arrangementsTalk 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's policies of non-discrimination and equity and will be applied fairly to all people, regardless of age, disability, gender identity or reassignment, marital or civil partnership status, being pregnant or recently becoming a parent, race, religion or beliefs, sex or sexual orientation, length of service, whether full or part-time or employed under a permanent or a fixed-term contract or any other relevant factor.
Genomics England does not tolerate any form of discrimination, harassment, victimisation or bullying at work.
Such behaviour is contrary to