BIOINFORMATICIAN & SYSTEM ADMINISTRATOR IN MOLECULAR GENETICS DIAGNOSTICS,
BIOTECH – LONDON – FULL TIME PERMANENT – £47,000+ PER YEAR + BENEFITS
We are a leading Genetic Testing organisation seeking an experienced Bioinformatician & System Administrator to join our team at the Royal Brompton Hospital on a permanent, Full-time basis.
- To run and contribute to the continued development and implementation of automated bioinformatic pipelines for DNA variant annotation and data reporting for the analysis of genetic variants.
- Develop, monitor, and assess systems to ensure that diagnostics and research is conducted in accordance with Good Clinical Practice (GCP) and Clinical and Research Governance.
- To provide technical maintenance and support for the GENinCode server and applications.
- To identify and rectify issues utilizing monitoring systems.
- To work in close coordination with the other GENinCode Bioinformaticians to support new features, software releases, and other technical issues.
- To optimize real-time performance requirements and system backups.
- To make sure the current security patches and bug fixes are intact.
- To conduct root cause analysis to prevent the recurrence of problems.
- To handle the recovery and restoration of servers/data.
- To provide technical assistance in system diagnostics, documentation, and errors.
- To support disaster recovery planning, testing, and execution and document and upgrade system software and hardware products.
- To identify and rectify any complex OS issues and ensure high availability and resiliency of production systems.
- To maintain hardware inventory and create/update procedural and quality management documentation.
- Assist with the development and implementation of Standard Operating Procedures (SOPs) for all activity carried out by the bioinformatics team, taking account of local policies and procedures.
- Advise on the assessment, feasibility, and day to day management of protocols, including identifying risk and resource utilisation issues.
- Support clinical researchers in the implementation of their studies.
- Assist with quality management, including regulatory audits and inspections and deal with any issues/actions necessary to maintain the high-quality standards of the clinical genetics diagnostic service.
- Ensure that Health and Safety guidelines are adhered to and that risk assessments are conducted.
- Ensure that all incidents, accidents and hazards are reported according to the incident reporting mechanisms.
- Work closely with referring clinicians, clinical scientists, genetic technologists and research assistants in the group to ensure an effective and high quality genetic diagnostic service to patients.
- Be responsible for high quality and high throughput data analysis, documentation and presentation of results for the generation of diagnostic patient reports.
- Update and curate software and annotation resources in use by the Clinical Lab Team.
- To validate and perform quality control of analytical methods for variant detection and annotation in a diagnostic setting, ensuring reliability of data at all times.
- Develop software tools to mine and visualise genomics data aligned to the needs of the Clinical Laboratory Team.
- Ensure the validity and reliability of data at all times.
- All data gathering and reporting activities must comply with the provisions of the Data Protection Act 1998. Patient identifiable data must be maintained according to the relevant company policy on confidentiality and data security.
- Ensure all work activities are documented appropriately.
- Maintain accurate and complete records of all findings.
- Degree or equivalent qualification in bioinformatics, data science or related fields.
- Experience in pipeline development for NGS, including all steps, fastq qc and management, mapping, bam management, variant calling (including cnv and structural variants), variant annotation and variant filtering.
- Deep knowledge of public databases, apis and software in the fields of sequence bioinformatics
- Linux SO. Strong Python and bash and Perl
- Java and R
- Experience in NGS resequencing analysis, custom panels, exome and genome.
- Experience in GWAS data analysis and polygenic risk scores.
- Experience QPCR analysis
- Git and version control. Documentation
- Go, app development.
- Docker or container technologies, virtual machine environments.
- Statistics and deep learning technologies
- Reliable and punctual
- Live within a Commutable distance to Royal Brompton Hospital, London
- £47,000+ basic Salary, subject to experience
- Excellent company benefits
- Leading Biotech organisation
PLEASE NOTE – ONLY SHORTLISTED APPLICANTS WILL BE CONTACTED
BIOINFORMATICIAN & SYSTEM ADMINISTRATOR IN MOLECULAR GENETICS DIAGNOSTICS, BIOTECH – LONDON – FULL TIME, PERMANENT – £47,000+ PER YEAR + BENEFITS
To apply for this post please email HR-UK@genincode.com