NGS Analyst

The NGS Analyst will be responsible for the processing, analysis and interpretation of genetic variants identified through WES (whole exome sequencing) and WGS (whole genome sequencing), in a clinical laboratory setting. Must be familiar with ACMG classification guidelines; be able to maintain tracking documents regarding the variant classification process; write clinical reports and communicate with laboratory directors, medical directors and genetic counselors regarding variant classification and clinical report text.

Responsibilities:

• Accurately perform pathogenicity assessment of variants detected in patients by reviewing data present in internal and external databases, as well as published literature, following ACMG classification guidelines.
• Assist in defining and updating variant analysis strategies, evaluation process, interpretation and reporting as more information becomes available (including gene and disease specific strategies).
• Collaborate on group projects by performing data collection and/or interpretation tasks for publication or presentation; process improvement; or development of new tests.
• Perform quality control testing in accordance with internal policies and procedures. Recognize and resolve abnormal, unusual or unexpected results; properly identify problems that require further action by the variant analysis department manager.

Requirements:

• Bachelor’s degree in health sciences
• At least 3-5 years of experience in variant analysis and classification from NGS (point mutations and CNVs) and desirable experience in analysis of other molecular techniques (Sanger, MLPA, etc.).
• Ability to generate clinical report text for highly complex genetic testing in collaboration with genetic directors and genetic counselors, both in Spanish and English.
• Experience in reading and interpreting documents such as scientific journal articles, medical reports and ability to select clinically relevant findings.
• High level of spoken and written English
• Communication, collaboration and teamwork skills.

What we offer:

⚕️ Medical insurance

⚕️ Dynamic & international work environment with a multicultural team

⚕️ Option to have flexible compensation

⚕️ Possibility of professional growth in the company

⚕️ Medical and healthcare sector

⚕️ Full-time fixed contract

If you believe your DNA matches our description, don’t hesitate and apply 🧬