Genetic Variant Specialist

3 days ago


Singapore Kk Women's And Children's Hospital Pte. Ltd. Full time
About Us

KK Women's and Children's Hospital Pte. Ltd. is a renowned medical institution dedicated to providing exceptional healthcare services.

Job Title: Genetic Variant Specialist - Clinical Genetics ResearchSalary:

$120,000 - $150,000 per annum

About the Role

We are seeking an experienced Genetic Variant Specialist to join our team of clinical genetics researchers. As a key member of our team, you will be responsible for analyzing and interpreting genetic variations identified by internal and external laboratories.

The successful candidate will have substantial post-doctoral experience in clinical genetics and variant interpretation. You will work closely with our bioinformatics team to develop and improve bioinformatics workflows, and provide domain knowledge expertise and training on variant curation best practices to colleagues of all levels.

Your responsibilities will include reviewing available lines of evidence and provisionally classifying variants per ACMG (or similar) guidelines, preparing relevant information for multidisciplinary team meetings to finalize variant classification, and ensuring the in-house database of genetic variants is kept up-to-date.

You will also design, plan, and oversee efforts for experimental characterization of variants of uncertain significance (i.e., VUS resolution), monitor scientific literature in relevant areas, and drive collaborative research projects with partnering institutions to advance knowledge in human disease genetics.

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.


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