Sequence Bio

Translator

• Prioritize, classify, and interpret human genetic variants in whole genome sequencing data by synthesizing information from scientific literature, databases, and clinical information.
• Read and interpret scientific literature and curate relevant findings related to a wide range of disease groups in a clear, concise, and precise manner.
• Lead development and implementation of variant curation strategies, variant scoring processes, and interpretation frameworks.
• Work with open source or proprietary variant interpretation software and databases.
• Collaborate closely with the Research and Tech teams to build systems and data models to integrate and track phenotypic data, genomic data, and interpreted variant results.
• Maintain tracking and documentation in relation to the variant classification process.
• Enthusiastically engage in a team culture of accountability, scholarship, openness, and collaboration, including but not limited to participation in group code reviews, journal clubs, lab meetings, and other informal mentoring arrangements.
• Other duties as assigned by your supervisor and/or CEO.

Variant Interpretation Scientist