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The University of Chicago Hiring for Clinical Genomic Variant Analyst – JR18993-3800 at Orland Park, Illinois Full Time
This job was posted by https://illinoisjoblink.illinois.gov : For more information, please see: https://illinoisjoblink.illinois.gov/jobs/10240192 Department
BSD HGD Molecular Diagnostics Non-Technical
About the Department
The Human Genetics Department is committed to fostering a vibrant scientific community in which all our members can thrive as students, scientists, and human beings. In this community, we include and celebrate people across all dimensions of identity, background, experience, and perspective. Although we share these values with many other scientists and scholars, we feel a special sense of responsibility because our subject is human genetic variation. In our research and education mission we are working to understand and address the ways in which the historical and social context of our field – including its relationship to systemic racism and other forms of social hierarchy – have shaped scientific work in genetics. We hope that in these ways our department can contribute to the development of genetics as a science that can help us all create a more enlightened and just society.
Job Summary
The job performs interpretation of genetic sequence variation identified through diagnostic clinical genetic testing, mainly pertaining to gene panels and exome analysis performed by Next Generation Sequencing (NGS).
Responsibilities
+ Uses in-house developed NGS analysis software to analyze and interpret genetic variation in patients with rare diseases.
+ Presents results and progress at weekly sign out meetings.
+ Evaluates relevance of genes to human disease and performs literature review to update current gene panels or design new panels.
+ Supports activities of the molecular diagnostic lab pertaining to new test and technology development.
+ Participates in the drafting of clinical molecular diagnostic reports if and when required.
+ Participates in education and mentorship of other analysis staff and collaborators through direct interaction and presentations.
+ Assists in preparation of manuscripts and presents at local or national professional conferences.
+ Participates in collaborations with other clinical or research laboratories.
+ Trains new laboratory personnel.
+ Leads the contributions to scientific writing and publications, including protocols and grants.
+ Performs other related work as needed.
Minimum Qualifications
Education:
Minimum requirements include a PhD in related field.
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Work Experience:
Minimum requirements include knowledge and skills developed through 2-5 years of work experience in a related job discipline.
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Certifications:
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Preferred Qualifications
Education:
+ PhD degree in genetics (human genetics, molecular genetics, neurogenetics, cancer genetics).
Experience:
+ Strong background in human genetics, next-generation DNA sequencing and/or knowledge of advanced methods for copy number detection.
+ Experience in rare disease analysis and sequence variant interpretation.
+ Familiarity with genomic data, tools and databases such as ClinVar, ExAc/gnomAD, OMIM, HGMD.
+ Proven ability to critically read and interpret scientific literature.
+ Computer programming, database design, and/or bioinformatics experience strongly preferred.
Preferred Competencies
+ Skills in performing Next Generation Sequencing bench work.
+ Excellent communicat ion skills with written and spoken English.
+ Excellent organization and time management skills.
+ Highly collaborative and able to work well in a team.
+ Good attention to details and ability to multi-task.
Application Documents
+ Resume/CV (required)
+ Cover Letter (required)
When applying, the document(s) MUSTbe uploaded via the My Experience page, in the section titled Application Documents of the application.
Job Family
Research
Role Impact
Individual Contributor
FLSA Status
Exempt
Pay Frequency
Monthly
Scheduled Weekly Hours
40
Benefits Eligible
Yes
Requires Compliance with University Covid-19 Vaccination Requirement
Yes
Drug Test Required
No
Health Screen Required
No
Motor Vehicle Record Inquiry Required
No
Posting Statement
Employees must comply with the University’s COVID-19 vaccination requirements. More information about the requirements can be found on the University of Chicago Vaccination GoForward.
