Variant Interpretation Scientist

Variant Interpretation Scientist (Remote) Sequence Bio is a Newfoundland and Labrador-based biotechnology company conducting genetic research to discover the true biological causes of disease. We collaborate with the people and medical professionals of Newfoundland and Labrador, and partner with leading pharma and biotech, to help accelerate the development of better preventions, treatments, and medicines for global unmet medical needs. The Opportunity The Research Team is focused on understanding the unique genetic architecture of the founder population of Newfoundland and Labrador. Through a research portfolio of internal projects and academic collaborations, we are studying the diseases that are overrepresented in this population so that we can better understand their etiology and help guide drug development. We are seeking a highly motivated Variant Interpretation Scientist to join our team. As a Variant Interpretation Scientist, you will become an expert in the genetics of a broad range of diseases and leverage that expertise to lead germline variant interpretation and discovery in our whole genome sequencing projects. If you are passionate about healthcare innovation and skilled in variant interpretation, this is a chance to help make a lasting, positive impact on the lives of patients and their families for generations to come. What You'll Do 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. Who You Are Required Qualifications & Skills 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 Why Join Sequence Bio Working with us means working for the benefit of others. Whether your job is analyzing multi-dimensional data sets or coding a research application - we’re all driven by the same purpose: enable breakthrough medical discoveries to improve lives around the world. Our Benefits include 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 Our Commitment Ethics, privacy and security excellence is rooted in everything we do at Sequence Bio. We are transparent about our information sharing policies and practices, and are committed to returning benefits to Newfoundland and Labrador. All our employees must uphold the company’s commitment in all they do and champion the company’s ethics, privacy and security mindset to ensure we maintain our best-in-class approach. Sequence Bio is proud to be an Equal Opportunity Employer. We are committed to Diversity, Equity, Inclusion and Belonging (DEIB), and recognize the importance and value of a diverse workforce. We are committed to creating a safe, inclusive and respectful environment for everyone we interact with. If you could benefit from an accommodation during any stage of our recruitment process, please share with us how we can best support you. Position(s): Full Time Location: Remote (within US and Canada); Occasional travel required Salary: Commensurate with experience and education #J-18808-Ljbffr