The University of Chicago Genetic Services Laboratories has a position available for a Clinical Variant Genomic Analyst! To apply please send an updated CV and a cover letter to Dr. Daniela del Gaudio at ddelgaudio@genetics.uchicago.edu

Job Description

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). 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.

Education

Masters or PhD in genetics/related field

Experience

Strong background in human genetics and next-generation DNA sequencing. Experience in rare disease analysis and 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.

Competencies

Skills in performing Next Generation Sequencing bench work is a plus.  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. Programming experience not required, but some experience with scripting languages such as Perl and Python, is preferred.