Department: Research Office/Pathology
Reporting to: Professor Gianpiero Cavalleri
Location: Dept of Pathology, ERC, Beaumont Hospital
Contract/Duration: Full Time, 3 Tear Fixed Term Contract
Remuneration: Aligned to Level 1 of the IUA Postdoc Salary scale
Closing Date: 24th August 2025
RCSI is a community of academic, research, clinical and professional staff working collaboratively to lead the world to better health. Here, you will thrive in an innovative and inclusive atmosphere and your personal development and wellbeing will be supported. We invite you to join us to help deliver on our exciting mission “To educate, nurture and discover for the benefit of human health”. We seek candidates whose experience to date has prepared them to contribute to our commitment to the “Race Equality Action Plan 2025-2029” at RCSI. Our students come from all walks of life and so do we. We hire great people from a wide variety of backgrounds. This makes our university stronger and ensures we hire the best talent.
Innovating for a Healthier Future 2023-2027 is RCSI’s new five-year strategic plan. Through it, RCSI will enhance human health by meeting the health workforce needs of society, creating the insights and inventions that drive health improvements, and working in partnership with patients and the public in support of better health and well-being for all. The strategy unites the RCSI community in supporting the UN Sustainable Development Goals – with a particular focus on Goal 3, which targets good health and well-being.
For each of the last six years, RCSI has been positioned in the Top 300 of universities worldwide in the Times Higher World University Rankings. We are proud that RCSI ranks fifth in the world for “Good Health and Well-being” in the Times Higher Education #SDG #SDG Impact Rankings 2024. This reflects our commitment to supporting people of all ages to live healthy lives and our work to promote the concepts of well-being and positive health. In 2024, RCSI was delighted to be named one of the Sunday Times Best Places to Work in Ireland.
At RCSI, our core values of Respect, Collaboration, Scholarship, and Innovation are at the heart of everything we do. We are committed to creating an inclusive and supportive environment where every colleague is valued and empowered to thrive. Our dedication to these values ensures that we foster a culture of mutual respect, open collaboration, continuous learning, and innovative thinking. Join us at RCSI, where your contributions will be recognised, and you will be part of a dynamic team making a real impact on global health.
About Our Research
RCSI recognises that excellence in research is critical to the quality of its educational activities, its credibility, and, overall, to its mission to enhance human health. RCSI’s research strategy aims to build upon its strength in translational biomedical and clinical research to deliver transformational, high impact changes in health care. Targeting both Irish national and EU funding, along with increased collaboration with industry, is a major part of the RCSI research strategy. Forging increased collaboration between RCSI PIs and industry is of critical importance to achieving success in this area. RCSI is also committed to provide its researchers with the supports and developmental opportunities to enable them to continuously grow and support their overall career development.
Summary of Post
Delivering on strategic commitments to invest in advanced research infrastructure and services, RCSI has developed a Genomics Laboratory. This facility provides researchers with genomics data generation capacity from Next Generation Sequencing (NGS) and other relevant platforms. It is an integrated clinical and research laboratory, fully accredited, providing a service to RCSI/Beaumont as well as national clinicians and researchers. The core facility integrates NGS with biobanking, digital pathology, clinical trials and data science in an end-to-end platform. Our vision is to optimise the potential of individual patient testing to ensure the greatest potential for diagnostics, innovation and discovery.
The successful candidate will be responsible for analysis of clinical and research NGS genomic datasets for integrated research and clinical applications. The role will span rare disease and cancer genetics – i.e. involve analysis of germline and somatic variation. Responsibilities include conducting analysis of genomic datasets involving SNVs, structural abnormalities and copy number abnormalities.
They will ensure data received and generated by the Laboratory is handled in an efficient, standardised, secure and accurate manner using cutting edge technologies and adhering to data governance ethical standards. This includes facilitating the analysis of sequencing data derived from tissue, blood and single-cell technologies, including, NGS data from Illumina MiSeq and NextSeq platforms and 10x Genomics data analysis. Additionally, the role will involve enabling the enrichment of RCSI-associated biobanks, with consented genomic datasets generated through diagnostic laboratories.
The successful candidate will form part of the team at the RCSI Genomics Laboratory, providing support to the RCSI research community.
Specifically, the duties of the post are:
- Conduct analysis of whole genome and whole exome sequencing data including genome comparison for cancer and somatic genomes, for diagnostic and research purposes.
- Conduct data analysis for diagnostic and research purposes; involving SNVs, copy number abnormalities, structural abnormalities, mutations and graphical representation of this data for scientific presentation and publication.
- Develop and manage databases for the storage of genomic data (WGS/exome/expression etc) and other relevant biological information.
- Facilitate transfer of consented NGS/genomic data generated through overseas service laboratories for Beaumont diagnostics.
- Develop and maintain analytical pipelines (including GATK) for alignment, variant calling, annotation and variant shortlisting for candidate gene/exome/whole genome diagnostic testing.
- Facilitate genomic diagnostics for rare disease, via the application of ACMG/AMP, ClinGen and AGCS guidelines.
- Analyse molecular datasets, such as genomic sequence data, microarray data or proteomics data for clinical or basic research purposes.
- Develop analytical pipelines to facilitate projects utilizing RNA, DNA and single cell sequencing technologies and the development of laboratory standard operating procedures for data analysis for the purpose of accreditation.
- Provide advice on experimental design and data interpretation in collaboration with research and clinical scientists.
- Interrogate/manipulate publicly accessible, commercial or proprietary genomic or post-genomic databases, genomic analysis tools (e.g. GSEA) and collaboration with laboratory scientists for the clinical application of this data.
- Keep abreast of new technologies, instrumentation or software by reading scientific literature and attending professional conferences. This includes independent presentation of data at conferenecs in digital, poster and oral forms.
- Communicate research results through conference presentations, scientific publications or project reports.
Qualifications – (Essential):
- PhD in Genomics Data Science or Bioinformatics or other directly relevant field, or equivalent research experience (i.e. 3+ years working experience directly in analysis of genomic data).
Knowledge & Experience – (Essential):
- Minimum of three years’ experience in a genomics data science position, post qualification with undergraduate degree.
- Independent competence in the analysis of cancer and somatic genomes including large scale comparative analysis and management of large data, datasets including WGS, WES, RNAseq, single cell sequencing (e.g 10X) and RNA seq.
- Experience working with genomic scientists for the generation, analysis and storage of NGS data.
- Working knowledge of medical terminology and medical experience.
- Strong independent coding skills (R, Python).
- Familiarity with Linux / Unix.
- Experience working in a GDPR compliant environment.
Knowledge & Experience – (Desirable):
- Experience and proficiency with applications of American College of Medical Genetics (ACMG) variant annotation guidelines.
- Experience in genomic database development, management, annotation, storage, sharing and public deposition for publication.
Application Process
Please apply online through the RCSI careers portal on the closing date with your CV and cover letter.
Click here to read our Recruitment and Selection Policy for Researcher.
Informal Enquiries:
Informal enquiries are invited in the first instance through Mark O’Dea, Human Resources Dept (email: [email protected]).
All applications for this post must be made through the career's webpage www.rcsi/careers. Mark can arrange for relevant queries on the academic aspects of the role to be addressed by the hiring manager. Please note we do not accept CVs directly.
Report job
