Variant Interpretation Scientist
Sequence Bio
full-time
Posted on:
Location Type: Remote
Location: Remote • 🇨🇦 Canada
Visit company websiteJob Level
Mid-LevelSenior
Tech Stack
Open Source
About the role
- 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
Applicant Tracking System Keywords
Tip: use these terms in your resume and cover letter to boost ATS matches.
Hard skills
variant interpretationhuman molecular geneticsvariant curation strategiesvariant scoring processesinterpretation frameworksHGVS nomenclatureclinical classification systemsHPO termsICD-10 codes
Soft skills
collaborationaccountabilityscholarshipopennesscommunicationmentoring
Certifications
PhD in genetics