- Company Name
- Genomics England
- Job Title
- Senior Genomic Data Scientist - 2 Year FTC, Adult Population Genomics Programme (we have office locations in Cambridge, Leeds & London)
- Job Description
-
Job Title: Senior Genomic Data Scientist – 2‑Year Fixed‑Term Contract
Role Summary: Lead the pharmacogenomics analytics within the Adult Population Genomics Programme, designing, validating, and implementing workflows to detect and report pharmacogenomic variants from whole‑genome sequencing data, while translating large‑scale genomic insights into actionable precision‑medicine outcomes.
Expectations:
- Deliver end‑to‑end analytics for 150,000 adult genomes, including statistical design, technology assessment, pipeline development, and result interpretation.
- Bridge clinical and research teams to communicate complex genomic findings to non‑technical stakeholders and drive data‑driven decision making.
- Publish findings and contribute to scientific literature, white papers, and conferences.
Key Responsibilities:
1. **Study Design & Planning** – conduct power calculations, sample‑size estimations, and outcome modelling.
2. **Technology & Tool Benchmarking** – evaluate alignment, variant‑calling, QC pipelines, and pharmacogenomics databases; recommend best‑practice solutions.
3. **Pipeline Development & Validation** – collaborate with Bioinformatic Engineers to build, test, and validate cloud‑scale or HPC processing pipelines, ensuring reproducibility and impact assessment.
4. **Computational Analysis** – perform custom analyses on whole‑genome datasets, focusing on pharmacogenomic variant detection and interpretation.
5. **Research & Dissemination** – review scientific literature, identify novel methods, and contribute to publications, presentations, and conferences.
Required Skills:
- Human germline WGS analysis in a pharmacogenomics context, with experience in rare disease genomics, polygenic risk, population genetics, or complex loci (e.g., HLA/KIR).
- Proficient in bioinformatics techniques, variant interpretation, haplotype phasing, and pharmacogenomic databases.
- Strong programming (Python) and statistical analysis (R/Python), including cloud‑scale and HPC environments; adept in experimental design, sample‑size, and power calculations.
- Proven track record of project delivery from planning to publication in genomics research.
- Excellent communication, collaboration, and automation mindset to convey complex concepts to diverse audiences.
Required Education & Certifications:
- Advanced degree (PhD or equivalent) in Genomics, Genetics, Bioinformatics, or a related life‑science field; or substantial professional experience with demonstrable expertise in genomic data science.