Genomic Data Scientist

Genomics England Limited; London; Hybrid; GBP 55,000 - 70,000; Full time

Job summary

An innovative organization is seeking a Genomic Data Scientist to join their Bioinformatics Consulting team. This role involves collaborating with multidisciplinary teams to analyze complex genomic data, contributing to groundbreaking research in rare diseases. You will leverage advanced datasets to identify drug targets and biomarkers, ensuring high-quality outputs and documentation. This opportunity allows you to be part of a mission-driven environment focused on improving genomic healthcare and driving medical discoveries. If you are passionate about genomics and data science, this role offers a rewarding platform to make a significant impact.

Benefits

30 days’ holiday plus bank holidays

Flexible working arrangements

Defined contribution pension

Subsidised gym membership

Individual learning budgets

Employee recognition programme

Qualifications

• Strong programming skills in R and Python with a background in statistical genetics.
• Experience with whole genome sequencing data in human genetics.

Responsibilities

• Preparing genomic data for analysis and ensuring quality control.
• Conducting custom computational analyses on genomic data.

Skills

R

Python

Statistical Genetics

Human Disease Genetics

Omics Modality Analysis

Cloud Computing

Genomic Data Analysis

Interpersonal Skills

Education

PhD in Statistical Genetics

PhD in Biostatistics

PhD in Population Genetics

Tools

Nextflow

Whole Genome Sequencing Data

Job description

• Department: Bioinformatics Research Services
• Office: London

Company Description

Genomics Englandpartners 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 areaccelerating our impactand 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.

Job Description

We are seeking a Genomic Data Scientist to join our Bioinformatics Consulting team to 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 multidisciplinary teams to develop and execute cutting edge projects that leverage Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic discovery, and patient stratification.

You will contribute to the scoping, implementation, and application of state-of-the-art approaches for analysis of genomic and other omics modalities, in both leading and supporting capacity. As an expert user of our datasets and research environment, you will 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:

• Preparing data for downstream analysis, e.g. through quality control, functional annotation, aggregation, harmonisation across different datasets.
• Planning and supporting analyses to meet project objectives with internal teams and external stakeholders. Providing support to internal teams and collaborators and being the point of reference for genomic datasets and analytical approaches.
• Performing custom computational analyses on whole genome sequencing and other omics data, such as GWAS, aggregate variant testing, meta-analysis, differential abundance, fine-mapping and MR.
• Researching the scientific literature, identifying new approaches to processing and analysis of genomics and multi-omics data, benchmarking and improving tools.
• Contributing to the publication and dissemination of findings via scientific papers, white papers and conference presentations.

Skills and Experience for Success:

• Strong programming skills (R, Python)and solid background of statistical genetics.
• Demonstrable experience using whole genome 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 with at least one additional omics modality (e.g. long read sequencing, single cell transcriptomics, proteomics, metabolomics).
• Proven track record in one or more areas of human germline DNA analysis such as genetic association testing, population genetics, pharmacogenomics, rare disease genomics, structural variation analysis, working with complex genomic regions such as HLA/KIR/PGx.
• 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 keep track of customer relationships, and a clear understanding of clinical and phenotypic data management and the sensitivities surrounding patient cohort data.
• Excellent interpersonal skills, attention to detail, self-motivation, collaborative and delivery mindset

Qualifications

A PhD involving one of the following: Statistical or Computational Genetics, Biostatistics, Population Genetics or equivalent quantitative discipline.

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:

• Generous Leave: 30 days’ holiday plus bank holidays, additional leave for long service, and the option to apply for up to 30 days of remote working abroad annually (approval required).
• Family-Friendly: Blended working arrangements, flexible working, enhanced maternity, paternity and shared parental leave benefits.
• Pension & Financial: Defined contribution pension (Genomics England double-matches up to 10%, however you can contribute more if you wish), Life Assurance (3x salary), and a Give As You Earn scheme.
• Learning & Development: Individual learning budgets, support for training and certifications, and reimbursement for one annual professional subscription (approval required).
• Recognition & Rewards: Employee recognition programme and referral scheme.
• Health & Wellbeing: Subsidised gym membership, a free Headspace account, and access to an Employee Assistance Programme, eye tests, flu jabs.

Equal opportunities and our commitment to a diverse and inclusive workplace

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 toour virtues , undermines our mission and core values and diminishes the dignity, respect and integrity of all parties. Our People policies outline our commitment to inclusivity.

We aim to remove barriers in our recruitment processes and to be flexible with our interview processes. Should you require any adjustments that may help you to fully participate in the recruitment process, we encourage you to discuss this with us.

Blended working model

Genomics England operates a blended working modelas we know our people appreciate the flexibility that hybrid working can bring.We expect most people to come into the office a minimum of 2 times each month.However, this will vary according to role and will be agreed with your team leader. There is no expectation that people will return to the office full time unless they want to, however, some of our roles require full time on site attendancee.g., lab teams, reception team.

Our teams and squads have, and will continue to reflect on what works best for them to work together successfully and have the freedom to design working patterns to suit, beyond the minimum.Our office locations are: Canary Wharf, Cambridge and Leeds.

Onboarding background checks

As part of our recruitment process, all successful candidates are subject to a Standard Disclosure and Barring Service (DBS) check. We therefore require applicants to disclose any previous offences at point of application, as some unspent convictions may mean we are unable to proceed with your application due to the nature of our work in healthcare.