JOB DESCRIPTION
The Clinical Genomics Research group focuses on developing new tools for genetic diagnostics and also building the basis of a personalized strategy for the Neurofibromatoses and Schwannomatosis. We are a multidisciplinary team performing both research and clinical tests since we are members of the Genetic Service at Hospital Germans Trias & Pujol and the Spanish Reference center of Phakomatoses.
Currently we are the coordinators of international Variant Curation Expert Panel (VCEP) for Neurofibromatoses and Schwannomatosis by ClinGen (NIH) and in addition we have several ongoing projects in the lab which are focused in: 1) development of new genetic tests methods; 2) massive genotyping to stablish individual polygenic risk scores for specific diseases 2) to study the contribution of NF2 mutation into the progression of schwannomas and meningiomas; 3) development of personalized therapy for Neurofibromatosis type 2 patients.
We are seeking an organized, motivated and team-oriented bioinformatician with previous experience in high-throughput data managing, software developing and with the desire to work in a multidisciplinary team focused in translational research and to get involved in the different projects of the group.
Para más información: https://www.germanstrias.org/es/bolsa-de-trabajo/1373/