Variant Interpretation Scientist
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Job Description
Variant Interpretation Scientist analyzing human genetic variants and collaborating with research teams at Sequence Bio. Focusing on understanding the genetic architecture of Newfoundland and Labrador's founder population.
Responsibilities:
- 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.
Requirements:
- PhD in genetics or related fields, with a strong background in human molecular genetics
- At least three years of variant interpretation experience
- Proficiency with human mutation databases, genome browsers, and HGVS nomenclature
- Familiarity with clinical classification systems, e.g. HPO terms and ICD-10 codes
Benefits:
- Fair and equitable salary
- Competitive stock option plan
- RRSP matching
- Flexible PTO
- Learning and professional development allowance
- Progressive health plan
- Wellness spending account
- Generous parental and family leave
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