Genomic Data Scientist (we have office locations in Cambridge, Leeds & London)

TieTalent; London; On-site; GBP 55,000 - 75,000; Full time

Job summary

A leading company in genomic healthcare is seeking a Genomic Data Scientist to join their Bioinformatics Consulting team. The role involves working on genome analysis projects, contributing to cutting-edge research, and collaborating with multidisciplinary teams. Candidates should have strong programming skills in R and Python, a PhD in a relevant field, and experience with whole genome sequencing data. The position offers a competitive salary starting from £55,000, along with a comprehensive benefits package.

Benefits

Flexible working arrangements

Pension scheme

Learning and development support

Health and wellbeing initiatives

Qualifications

• Experience with whole genome sequencing data in human genetics.
• Strong background in human disease genetics, preferably in rare or complex diseases.

Responsibilities

• Preparing data for downstream analysis, including quality control and functional annotation.
• Performing custom computational analyses on whole genome sequencing and other omics data.

Skills

Programming

Statistical Genetics

Interpersonal Skills

Education

PhD in Statistical or Computational Genetics

Tools

R

Python

Nextflow

Job description

Genomic Data Scientist (We have office locations in Cambridge, Leeds & London)

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.

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 on rare or complex diseases, in collaboration with 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 capacities. 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., quality control, functional annotation, aggregation, harmonization 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 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 a solid background in statistical genetics.
• Demonstrable experience using whole genome sequencing data in human genetics.
• Strong background in human disease genetics, preferably in rare or complex diseases, demonstrated by publication record or industry experience.
• Experience with at least one additional omics modality (e.g., long read sequencing, single-cell transcriptomics, proteomics, metabolomics).
• Proven track record in human germline DNA analysis areas such as genetic association testing, population genetics, pharmacogenomics, rare disease genomics, structural variation analysis, working with complex genomic regions like HLA/KIR/PGx.
• Experience working in the cloud, building containers, and running pipelines in Nextflow.
• Ability to communicate effectively with stakeholders from diverse backgrounds and an understanding of clinical and phenotypic data management and patient cohort data sensitivities.
• Excellent interpersonal skills, attention to detail, self-motivation, collaboration, and delivery mindset.

Qualifications

A PhD involving Statistical or Computational Genetics, Biostatistics, Population Genetics, or equivalent quantitative discipline.

Additional Information

Salary from £55,000.

We offer a comprehensive benefits package, including generous leave, flexible working arrangements, pension scheme, learning and development support, health and wellbeing initiatives, and a commitment to diversity and inclusion.

Genomics England is dedicated to promoting an inclusive environment that values diversity and promotes equity, where everyone is treated with respect regardless of background or identity.