Healthcare Scientist-Rare Disease Genomics
Cambridge, United Kingdom
Cambridge University Hospital NHS Foundation Trust
and reporting a range of diagnostic, predictive, screening and prenatal genomic tests for the team. Knowledge and experience of variant interpretation frameworks for the analysis of sequence and/or copy number variants is desirable. There will be opportunity to support service development and R&D projects. This is … funded access to formal training modules/MSt. Main duties of the job 1. Monitoring referrals into the laboratory for a specialist area 2. Analysis, interpretation and reporting of genetic test results 3. Deliver and maintain a high quality diagnostic service About us Our Trust Cambridge University Hospitals (CUH … used for the diagnosis of human inherited disorders Desirable Able to conduct Research and Development activities. Ability to carry out audits, incident investigations and root cause analysis. Experience of bioinformatics tools Experience in using interpretation frameworks for the analysis of genomic variants Additional Requirements Essential The ability more »
Employment Type: Permanent
Salary: £35392.00 - £42618.00 a year
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