Clinical Genomic Variant Analyst

Department

BSD HGD - Molecular Diagnostics

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.

Work Experience:

Minimum requirements include knowledge and skills developed through 2-5 years of work experience in a related job discipline.

Certifications:

---

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 communication 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)

Job Family

Research

Role Impact

Individual Contributor

Scheduled Weekly Hours

40

Drug Test Required

No

Health Screen Required

No

Motor Vehicle Record Inquiry Required

No

Pay Rate Type

Salary

​
FLSA Status

Exempt

​
Pay Range

$70,000.00 - $90,000.00

The included pay rate or range represents the University’s good faith estimate of the possible compensation offer for this role at the time of posting.

Benefits Eligible

Yes

The University of Chicago offers a wide range of benefits programs and resources for eligible employees, including health, retirement, and paid time off. Information about the benefit offerings can be found in the Benefits Guidebook.

Posting Statement

The University of Chicago is an equal opportunity employer and does not discriminate on the basis of race, color, religion, sex, sexual orientation, gender, gender identity, or expression, national or ethnic origin, shared ancestry, age, status as an individual with a disability, military or veteran status, genetic information, or other protected classes under the law. For additional information please see the University's Notice of Nondiscrimination.

 

Job seekers in need of a reasonable accommodation to complete the application process should call 773-702-5800 or submit a request via Applicant Inquiry Form.

 

All offers of employment are contingent upon a background check that includes a review of conviction history.  A conviction does not automatically preclude University employment.  Rather, the University considers conviction information on a case-by-case basis and assesses the nature of the offense, the circumstances surrounding it, the proximity in time of the conviction, and its relevance to the position.

 

The University of Chicago's Annual Security & Fire Safety Report (Report) provides information about University offices and programs that provide safety support, crime and fire statistics, emergency response and communications plans, and other policies and information. The Report can be accessed online at: http://securityreport.uchicago.edu. Paper copies of the Report are available, upon request, from the University of Chicago Police Department, 850 E. 61st Street, Chicago, IL 60637.