Position Summary(Basic Job Function)
This is a temporary or an on-call position. Provides professional support. Responsibilities may include general business, science, medical, agricultural or other professional support functions. Term: Temps can work two (2) nine (9) month terms with a week break in service in between and at the end of the second term terminate for three (3) months or switch to an on-call. On-Call allowed to work 1039 hours in any twelve (12) month period.
Unit Position Summary
The Clinical Genomics Scientist will join an interdisciplinary research team of an epidemiologist, clinical pathologist, laboratory geneticists, and bioinformaticians supporting a research study investigating the prenatal contributions to autism spectrum disorder (ASD). The team performs next-generation sequencing (NGS) data processing and analysis on research samples, combining state-of-the-art genetic testing with comprehensive interpretation of results for participants in the study. The successful candidate will be primarily responsible for conducting variant interpretation and curation for NGS panel data generated by the study. This includes reviewing participants' clinical histories and phenotypic information; establishing genotype-phenotype correlations; and conducting pathogenicity assessment of variants using current ACMG/AMP variant classification guidelines and major human genetics databases, including OMIM, ClinVar, HGMD, and gnomAD. The Clinical Genomics Scientist will work collaboratively with the research investigators, and will communicate variant curation findings and their significance to referring clinicians or other health care professionals involved in participant care. Additional responsibilities may include contributing to the improvement of curation pipelines and internal databases, assisting with protocol and test development, maintaining accurate and detailed records of all curation work, and participating in laboratory meetings, case discussions, and presentations of findings.
Desired Qualifications
MS in Genetic Counseling from an ACGC - credited program.
Minimum of 5 years of clinical experience in pediatric genetics and/or neurogenetics
Experience in clinical variant curation and interpretation, including application of ACMG/AMP variant classification guidelines.
Experience communicating complex genetic findings to physicians, scientists, and other health care professionals.
Thorough understanding of medical terminology and major human genetics databases, including OMIM, ClinVar, HGMD and gnomAD
Familiarity with next generation sequencing technologies (exome sequencing, genome sequencing, and targeted NGS panels).
Excellent written and verbal communication skills, with strong attention to detail.
ABGC board certification as a Genetic Counselor.
Ability to work independently and collaboratively within a multidisciplinary research team.
Prior experience or interest in autism spectrum disorder and/or neurodevelopement genetics research is a plus.
Equal Employment Opportunity Statement
All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, citizenship, age, disability or protected veteran status.
Required Application Materials
Resume/CV, cover letter, and contact information for three professional references.
Work Hours
ON-CALL
