Bioinformatic/Analytical Variant Interpretation

Description

Job Summary: Participate in the analysis and interpretation of next-generation sequencing (NGS) results, identifying clinically relevant variants and preparing diagnostic reports. Key Responsibilities: 1. NGS data analysis and interpretation, and genetic variant interpretation. 2. Collaboration in improving and automating laboratory processes. 3. Contribution to the identification of clinically relevant variants. **Job Mission** Participate in the analysis and interpretation of next-generation sequencing (NGS) results, contributing to the identification of clinically relevant variants and the preparation of diagnostic reports. The role will progressively evolve toward optimizing and automating analytical processes to increase laboratory productivity and efficiency. **Responsibilities: Data Analysis and Interpretation** * Review results generated using NGS technologies. * Analyze lists of genetic variants derived from analysis pipelines (ranging from hundreds to thousands of variants per sample). * Apply filtering and prioritization criteria to identify potentially pathogenic or clinically relevant variants. * Consult variant databases and scientific literature to support variant interpretation. * Prepare clear, comprehensive, and rigorous technical reports for validation. * Collaborate with the scientific team to resolve complex cases. **Process Improvement and Automation** * Identify repetitive tasks amenable to automation. * Participate in designing tools that reduce analysis time and minimize manual errors. * Collaborate in the continuous improvement of laboratory workflows. * Propose initiatives that enhance analytical process productivity and quality. **Requirements** * Specialized education in Molecular Genetics, Genomics, or Bioinformatics. **Experience** * Experience—whether through internships, early-career roles, or final-year thesis projects (TFG/TFM)—in NGS data analysis, variant interpretation, or diagnostic genetics. **Technical Knowledge** The following skills will be valued: * NGS technologies. * Genetic variant interpretation and classification. * Variant databases and reference resources. * Clinical and molecular genetics. * Microarrays and karyotyping (desirable). * Advanced Excel proficiency. * Basic bioinformatics knowledge. * Basic programming (Python, R, or equivalent tools) oriented toward process automation. Salary: €18,500.00 per month Work Location: On-site employment