Mining data from National genomics Research Library to enable new gene discovery

Whole Genome Sequencing (WGS) is a new genomic testing technology and process which became available through the NHS in April 2022. The process of WGS is multifaceted and facilitated across multiple clinical departments within the NHS. The National genomic Research Library (NGRL) is a comprehensive database that enables approved researchers to access de-identified genomic data, health data and samples. It is a partnership between NHS England and NHS Improvement (NHSE/I) and Genomics England. This central resource, linked to the Genomic Medicine Services (GMS), aims to provide access to research opportunities to improve diagnoses and our understanding of health and disease, as well as accelerate the development of new biomarkers, diagnostics and therapeutic agents. This proposal will involve mining data within the NGRL to identify novel causes of rare disease including neurodevelopmental disorders.

Objectives:

1.     Access data from within NGRL looking at specific disease phenotypes

2.     Identify potential causal genes and correlate with international datasets

3.     Functional work to understand mechanism of action

4.     Cohort papers based on novel gene discovery

Entry Requirements:

Candidates must have a first or upper second class honors degree or significant research experience. In addition, candidates must be self-motivated, have the ability to think independently, use own initiative, have good communications skills and be well-organized including good time management. An MSc or experience in bioinformation, molecular genetics, including data mining, cell culture and in vivo studies would be desirable but not essential.

Enquiries:

Interested candidates should in the first instance contact (Dr Balasubramanian, [email protected])

How to apply:

Please complete a University Postgraduate Research Application form available here: www.shef.ac.uk/postgraduate/research/apply

Please clearly state the prospective main supervisor in the respective box and select ‘School of Medicine & Population Health: Oncology & Metabolism’ as the department.