Clinical Bioinformatician -- Mat Cover

Job overview

The postholder will contribute to the development, validation and implementation of Artificial Intelligence and Machine Learning methodologies to enhance genomic data analysis and interpretation in a clinical setting. Working within the Translational Research and Bioinformatics team, the Research Bioinformatician will support translational research, optimise data pipelines for high-throughput sequencing, and integrate AI/ML approaches into clinical workflows. The role involves close collaboration with clinicians, scientists, data engineers and external partners to ensure research outputs are robust, reproducible and clinically relevant.

In addition, the postholder will design and develop web portals for data visualisation, support scientists with NGS data analysis and interpretation, and manage data storage, backup and user support. They will also contribute to staff training, documentation and SOPs, ensuring compliance with legal and ethical standards for handling and transmitting genetic and sensitive patient data

Main duties of the job

The main objective of the post holder is to provide expert bioinformatics knowledge and support for the provision and development of next generation sequencing (NGS) data analysis in Clinical Genomics both for diagnostic and R&D applications. They will contribute to the development of analysis pipelines and state of the art web portal necessary to provide an efficient and high quality clinical genomics service for cancer patients. Responsibilities of the post holder will include designing, implementing and maintaining NGS data analysis pipelines for a range of applications including custom enrichment panels, whole exome sequencing, gene expression profiling as well as genome-wide methylation analysis.  In addition, the post holder will also involved in designing web portal for data visulisation and  supporting Clinical Scientists and research scientist to analyse and interpret NGS report. Moreover, the post holder will be responsible for storage and backup of NGS data, user support, delivering staff training, writing standard operating procedures and other documents as well as ensuring that the department complies with legal and professional requirements in regards to storage and transmission of patient’s genetic and sensitive data.

Detailed job description and main responsibilities

For further information please refer to the job description and personal specification

• To develop and maintain a secure web portal for the NGS data analysis and sharing of clinical data.
• Maintain internal databases, linked to the main public genome databases and North Thames Genomic Laboratory Hub (NT-GLH) central database
• To organise, store and backup data in a timely manner.
• To operate pipelines for the processing and analysis of raw data from high throughput sequencing (next generation sequencing) including calling of variants, translocations, amplification, deletions and other clinically relevant genomic alterations.