To apply highly specialist scientific skill and expertise in diagnostic laboratory genetics including troubleshooting of assays and techniques both existing and in development. To ensure that the service is effective and current by regular literature review. To implement laboratory procedures for sample receipt, processing, IQC, analysis, checking, interpretation, preparation of reports (both standard and complex) and reporting of results. In partnership with others, to be responsible for the accuracy, timeliness and appropriateness of a variety of routine and non-routine highly specialised genomic tests. To correctly interpret and explain results with advice on further action for patient or family members, including calculation of risk and use of appropriate online resources, literature and databases as appropriate, within relevant professional guidelines and subject to supervision from senior staff. To contribute to appropriate multidisciplinary team meetings to give a professional opinion on clinical cases. To communicate scientific data and results at local, national and international meetings and in the scientific literature under the overall direction of senior staff. Authorisation of a subset of clinical and administrative reports, as directed by senior staff To work with the team to ensure achievement of and adherence to the standards required of a CPA (Clinical Pathology Accreditation UK Ltd.) accredited Laboratory, in close liaison with the Quality Lead and Quality Manager and under the direction of the Head of Section and ultimately the Head of Department. The post holder will participate and lead with medium-term service development and enhancement under the overall direction of more senior staff. This may include: o Contribution to evaluation and implementation of new methods or new ways of working etc. o Evaluation of published developments and innovations and their transfer into clinical practice o Project supervision To undertake continued training and development and to acquire, improve and apply new skills to ensure safe efficient and effective service delivery and to comply with the appropriate CPD scheme. The post holder is encouraged to work towards further qualifications (eg FRCPath). Bioinformaticians Assist with the formulation, testing, problem solving, validation, organisation andimplementation of innovative approaches that enable the efficient processing,analysis, storage, management and refinement of large amounts of complex datagenerated by Next Generation Sequencing (NGS) pipelines. Make adjustments to ensure the outcomes meet the requirements of the users (eg. toenable a clinician or clinical scientist to view and interpret relevant data at patientlevel). Assist with the design, troubleshooting and documentation of procedures foranalysing various sources of IT issues when an NGS pipeline (for example) is notworking as it should. Assist with identifying how to use data innovatively but ethically to derive the mostbenefit for the patient (for example, to make new genetic diagnoses). Responsible for using initiative and specialist knowledge of bioinformatics, statisticalanalysis, data mining and programming, to make decisions on how to obtain requiredresults within defined criteria and ensure timely delivery of high quality information. Responsible for the communication of developments in bioinformatics to diagnosticand research staff working in the laboratory.