Data Engineer-Jobs in Italien

Job Description

Company DescriptionGenomics in 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 genome analysis and interpretation projects, focusing 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 projects leveraging Genomics England datasets to address research goals such as drug target identification, biomarker discovery, diagnostic development, and patient stratification.

You will contribute to the design, implementation, and application of advanced approaches for analyzing genomic and other omics data, both as a lead and supporting researcher. As an expert user of our datasets and environment, you will develop and optimize tools and pipelines for custom analyses, generate new data, and contribute to high-quality reports and documentation.

Everyday responsibilities include:

1. Preparing data for analysis, including quality control, functional annotation, aggregation, and harmonization across datasets.
2. Planning and supporting analyses to meet project objectives with internal teams and external stakeholders.
3. Providing support to collaborators and being the reference point for genomic datasets and analytical approaches.
4. Performing computational analyses on whole genome sequencing and other omics data, such as GWAS, variant testing, meta-analysis, differential abundance, fine-mapping, and MR.
5. Researching scientific literature, identifying new analysis approaches, benchmarking, and improving tools.
6. Contributing to scientific publications, white papers, and conference presentations.

Skills and Experience for Success

• Strong programming skills (R, Python) and a solid background in statistical genetics.
• Experience with whole genome sequencing data in human genetics.
• Background in human disease genetics, preferably in rare or complex diseases, demonstrated through publications or industry experience.
• Experience with additional omics modalities (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, and complex genomic regions.
• Experience working in the cloud, building containers, and running pipelines in Nextflow.
• Excellent communication skills with stakeholders from diverse backgrounds and understanding of clinical and phenotypic data management.
• Attention to detail, self-motivation, and a collaborative, delivery-focused mindset.

Qualifications

A PhD in Statistical or Computational Genetics, Biostatistics, Population Genetics, or a related quantitative discipline.

Additional Information

Salary: from £55,000

We offer a comprehensive benefits package, including generous leave, flexible working arrangements, pension schemes, learning and development support, recognition programs, and wellbeing initiatives. We are committed to diversity and inclusion, promoting an equitable workplace free from discrimination and harassment.