Bioinformatician in Molecular Genetics Diagnostics

Guy's and St Thomas' NHS Foundation Trust; London; On-site; GBP 35,000 - 50,000; Full time

Job summary

A leading healthcare provider in London is seeking a Bioinformatician to enhance their diagnostic services in genetics. The successful candidate will develop automated pipelines and collaborate closely with medical professionals for high-quality data analysis. A strong background in bioinformatics and genetics is essential, including experience in training and implementing innovative tools. This role offers the opportunity to participate in cutting-edge genomic research and contribute to patient care.

Qualifications

• Experience in delivering bioinformatics training and STP curriculum.
• Background in human molecular genetics and bioinformatics.
• Experience in developing bioinformatics pipelines.

Responsibilities

• Develop and implement automated pipelines for DNA variant annotation.
• Assist in regulatory audits and inspections for UKAS accreditation.
• Collaborate with clinicians and scientists on genetic analysis.

Skills

Bioinformatics

Human molecular genetics

Automated DNA sequence annotation

Variant detection

Training delivery

Education

Relevant degree in Bioinformatics or Genetics

Tools

Next-Generation Sequencing tools

Long-Read Sequencing tools

Job description

Overview

Applications are invited for a Bioinformatician based in the Clinical Genetics and Genomics Laboratory in the Royal Brompton Hospital. The applicant will be part of the bioinformatics team responsible for the delivery of the genetics diagnostic service, as well as be involved in the development of further bioinformatics pipelines and tools in order to expand the spectrum of genetics tests using Next-Generation and Long-Read Sequencing, as well as other assays. The post-holder will optimally have some background in human molecular genetics and bioinformatics and will take responsibility for automated DNA sequence annotation and variant detection, interpretation and collation of variants, report generation, database development, implementation of visualisation tools and data warehousing and they will have experience in delivering bioinformatics training and STP curriculum. They will be responsible for optimising and streamlining workflows with integrated pipelines to simplify and speed up data analysis for a large and growing dataset, developing tools to aid the services whilst ensuring alignment with UKAS accreditation. The post-holder are expected to have experience in delivering bioinformatics training and STP curriculum.

Responsibilities

• To take an active role in the continued development and implementation of automated pipelines for DNA variant annotation and data reporting for the analysis of genetic variants which underlie inherited disorders
• Assist with the development and implementation of Standard Operating Procedures (SOPs)
• Assist and perform regulatory audits and inspections towards UKAS accreditation
• Work closely with referring clinicians, clinical scientists, genetic technologists and research assistants in the group
• Be responsible for high quality and high throughput data analysis, documentation and presentation of results
• Update and curate software and annotation resources in use by the Clinical Genetics and Genomics Laboratory
• Participate in the selection, procurement, maintenance and servicing of all hardware and software used by the group People management
• Contribute towards the development of skills in data analysis in diagnostics and research
• Participate in the delivery of bioinformatic training and education to students
• To validate and perform quality control of analytical methods for variant detection and annotation in a diagnostic setting
• Develop software tools to mine and visualise genomics data
• To actively participate in group diagnostic and research meetings and internal seminars

Organisation

The Royal Brompton & Harefield Hospitals are part of Guy’s and St. Thomas’ NHS Foundation Trust, with the Heart and Lung Clinical Care Group forming the largest heart and lung centre in the UK and among the largest in Europe. We are a partnership of specialist hospitals which are known throughout the world for our expertise, standard of care and research success. The Clinical Genetics and Genomics Laboratory is also part of the NHSE South East Genomic Laboratory hub and is one of four cardiac and one of three respiratory laboratories, delivering the specialist testing nationally.

The Clinical Genetics and Genomics Laboratory in the Royal Brompton has generated deep expertise in cardiovascular (CV) and respiratory genetics through a large programme of work over the last 7 years and has established infrastructure, expertise and variant repositories on site. The CGGL has developed sophisticated bioinformatic tools and pipelines for the analysis and reporting of different types of sequence data and is actively involved in research to develop new technologies. The diagnostic service collaborates closely with the National Heart and Lung Institute (NHLI), Imperial College London.

Organisational Values

Our values help us to define and develop our culture, what we do and how we do it. It is important that you understand and reflect these values throughout your employment with the Trust.

Contact

For further details / informal visits contact: Name: Deborah Morris-Rosendahl
Job title: Laboratory director
Email address: [e-mail]