Curator / NGS Analyst (Veritas Intercontinental)
Location
Madrid | Spain
Job description
This position will be based in our Veritas International Madrid Offices.
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 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
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Job tags
Salary