A Variant Scientist position is available at KK Women's and Children's Hospital (KKH) for experienced candidates with substantial post-doctoral experience in clinical genetics and clinical variant interpretation.
The successful candidate will be principally responsible for analysis and interpretation of genetic variation identified by internal and external laboratories, with the aim of delivering accurate and comprehensive clinical genetic testing reports to patients and their care providers.
Other responsibilities include:
- Review available lines of evidence and provisionally classify variants per ACMG (or similar) guidelines. Prepare relevant information for multidisciplinary team (MDT) meetings to finalize variant classification.
- Ensure the in-house database of genetic variants is kept up to date, and that periodic variant re-analysis is performed.
- Work closely with the bioinformatics team to develop and improve bioinformatics workflows.
- Provide domain knowledge expertise and training on variant curation best practices to colleagues of all levels.
- Design, plan and oversee efforts for experimental characterization of variants of uncertain significance (i.e., VUS resolution).
- Monitor scientific literature in relevant areas and ensure that the team is aware of emerging gene-disease relationships, new analysis methods and other pertinent information.
- Drive collaborative research projects with partnering institutions to advance knowledge in human disease genetics.
- Lead the writing of scientific publications to ensure that novel findings are disseminated.
Requirements:
- PhD in a life sciences-related field.
- Minimum of 5 years post-doctoral experience (either in a research or clinical laboratory) with relevant work experience (i.e., variant curation, molecular genetics, etc.).
- Able to demonstrate previous experience and proficiency in the application of variant classification guidelines (e.g., ACMG).
- Able to demonstrate experience and expertise in using software such as R to perform necessary data analyses for research projects and scientific manuscripts.
- Strong track record of publishing scientific papers in clinical molecular genetics.
- Experience in design and execution of experimental molecular genetics studies is highly desirable.
