Senior Scientist
Current• Assessment, design, and implementation of genetic tests, clinical reports and analytic algorithms, in the areas of pharmacogenomics and nutrigenomics;• Implementation of a clinical report for cancer therapy, including the prioritization of variants to determine those potentially implicated and/or with clinical impact in a patient's phenotype;• Development of a Next-Generation Sequencing (NGS) pipeline for variant calling of germline variations, using data from exome and amplicon sequencing;• Collaborate with software engineers to integrate Polygenic Risk Scores (PRS) into personalised health reports accurately and efficiently;• Maintain and transfer PRS algorithms and code to support the launch of new reports, including implementing new health risk calculations based on genetic data;• Liaison and monitoring of customers and employees on issues related with genetics.
