You will be responsible for:

• The use of bioinformatics tools and databases for the identification of pathogenic variants causing hereditary diseases and cancer.
• Analysis of complete genomes, exomas and gene panels resulting in clinical reports following the highest quality standards
• Collaborate with our team of geneticists and bioinformaticians to evaluate and improve our NGS diagnostic process.
• To help our R&D team in the continuous development of our services and diagnostic tools.

You must have the following skills and qualifications:

• Bachelor’s Degree in Human Genetics, Biology, Bioinformatics, or related fields (very valuable MSc or specialized Doctorate)
• Excellent knowledge of Human Genetics
• Experience in molecular diagnostics laboratory and NGS data evaluation
• Knowledge of LINUX environment and development of NGS pipelines is a plus