Variant Scientist Jobs

About The Position

Requirements

• PhD (or equivalent) degree in molecular genetics, molecular biology, or related field
• 3+ years of work experience in a related job discipline

Nice To Haves

• MSc in Genetic Counselling

Responsibilities

• Conduct Research - Genetic data analysis - conducting variant interpretation for clinical genome sequencing, exome sequencing, NGS panel, and single gene tests.
• Understand medical terminologies and the functionalities of major human genetics information databases, including OMIM, HGMD, ClinVar, and gnomAD.
• Review patient's clinical history, family pedigree and physician notes.
• Establish genotype-phenotype correlations and conduct pathogenicity assessment of variants by complete evaluation of gene and variant information.
• Design, execute and record laboratory experiments; apply standard scientific/research protocols to experiments, research and improve current methods and evaluate innovative techniques.
• Design and perform experiments and record data according to research protocol.
• Independently reproduce, evaluate, research and improve techniques currently used.
• Adapt new methods to existing procedures and modify current experiments through scientific knowledge and intuition.
• Maintain accurate and detailed records of all laboratory work and experiments.
• Develop, set-up and verify new procedures in the laboratory.
• Standardize and establish new published procedures; evaluate innovative techniques.
• Develop new assays and new protocols; design formats.
• Discuss relevant insights about experimental results with Director and provide useful recommendations and analysis.
• Troubleshoot and correct erroneous results or problems with laboratory equipment.
• Maintain and repair equipment; monitor proper use by personnel.
• Maintain optimal protocol and assay accuracy by conducting regular quality and reproducibility checks.
• Demonstrate performance at work, consistency in carrying out instructions, accuracy & attention to detail, achieving expected results & continuous improvement.
• Analysis Process Improvement - Contributing to analysis pipeline and procedure optimization, and in-house database update and improvement.
• Provide professional opinions and feedback on existing pipelines and databases, as well as commercial pipelines/ tools to make differences in improving the efficiencies and qualities of the services.
• Development - Contributing to the development of clinical tests, and to the establishment of standard operating protocols, policies, and other documentations.
• Keep track of the field of molecular diagnosis, and identify the areas of new test development.
• Participate in generating candidate gene lists, establishment of procedure, and test validation.
• Professional communications - Engaging in clinical and scientific discussions and presentations within the institution or at scientific conferences.
• Attend meetings on exome case discussion, and present clinical findings in the molecule genetics laboratory meetings.
• Attend and present scientific findings at scientific conferences.
• Publish - Draft, write and edit scientific reports, papers, journal articles and abstracts.
• Present at local, national and international scientific meetings.
• Teamwork - Effectively communicate with physicians, clinical variant curators, genetic counselors, lab technologists, bioinformatic specialists, and laboratory directors.
• Provide specific expert opinions on variants, genes and clinical findings.
• Work collaboratively with various teams within the laboratory.
• Train and supervise the work of other laboratory personnel as appropriate.
• Maintain an integral role in the laboratory's meetings, presentations and publications.
• Present information on research and laboratory work to others at laboratory meetings, journal clubs and seminars.
• Demonstrate attendance and punctuality, ability to work independently & display initiative and dedication.
• Financial Management - Assist in preparing, writing and maintaining fiscal budget.
• Monitor expenditures and prepare capital expenditure requests.
• Prepare, approve and initiate check requests; track funding, maintain accurate balance and resolve any discrepancies.
• Leadership - May act as a mentor to more junior staff, serve as the contact for resolution of complex issues, provide education, guidance and work direction.
• May provide input and feedback to managers on hiring decisions, professional development and performance management.

Benefits

• Comprehensive job description provided upon request.