Idoia Gomez-Paramio
HCPC reg. Clinical Scientist: Bioinformatics - Genomics
clinical and diagnosis
genomics and bioinformatics
management
research and development
teaching and training
Driving License
Manchester (M20 1LW) United Kingdom
Professional Status
Employed
Open to opportunities
Registered Clinical Scientist - Bioinformatics - Genomics
Manchester University Hospitals FT
Since October 2018
- Running of over 60 NGS bioinformatics diagnostics services (i.e. single genes, panels and exomes)
- Innovation leader: appraisal of state-of-the-art applications for diagnosis
- NGS gene panel development & customisation
- Troubleshooting and optimisation of variant detection in germline and somatic disorders
- Development of new bioinformatics pipelines using molecular tagging
- Analysis of the applicability of Machine Learning (AI) in diagnosis
- Presenter and trainer of academic, clinical staff and STP trainees
- University guess lecturer and course facilitator in Genetics/Genomics and Clinical bioinformatics
- Validation of new equipment, software and SOP
- Participation in ISO 15189:2012 for Bioinformatics and audits
