Genome Bioinformatics Analyst

Job Summary

To support the clinical genomics lab, the full-time Genome Bioinformatics Analyst will design and execute validation studies, curate genetic knowledge, and participate in clinical research projects while working remotely.

Key responsibilities

• Designs and executes clinical validation studies to assess diagnostic test performance
• Curates disease, gene, and variant knowledge, implementing resources into clinical operations
• Maintains SOP documentation of NGS bioinformatics pipeline and reviews patient results for clinical reports

Required qualifications

• PhD in molecular biology, human genetics, bioinformatics, computational biology, or related field; MS degree may be considered with 2+ years of relevant experience
• Strong experience with standard molecular genetics technologies and Next Generation Sequencing
• Clinical diagnostic experience preferred
• Familiarity with bioinformatics tools and databases such as samtools, IGV, and HGMD
• Statistical and bioinformatics skills are a plus