"NGS Lab Specialist (Department of Genetics)"

The NGS specialist will work in the Genetic Diagnostic laboratory of Dr. Arupa Ganguly. The NGS specialist will perform, analyze, and aid in the execution of complex experiments for the molecular diagnosis of genetic diseases offered by our laboratory and make sure the tests are completed within specified time frames. The specialist will also oversee the implementation and execution of a new NGS project in collaboration with the Penn Genomic and Sequencing Core and a newly started large scale My Genome Project. The NGS specialist will oversee the timely progression of the project and aids in all aspects of Laboratory Information Management System, Clarity LIMS, that will track sample entry, sample processing and library preparation for WGS sequencing using Illumina's NovaSeqX Plus platform and feed it into the Dragen Platform (Illumina) for accurate data analysis and Variant analysis. This work will be done in collaboration with current lab members and Illumina.

Job Responsibilities:

• Perform and analyze various complex experiments, including sequencing (NGS and Sanger), qPCR, methylation and inversion analyses, for various genetic tests offered by GDL. Oversee the timely completion of the tests.
• Oversee NGS project for timely progression and implement necessary changes to meet expected deadlines in collaboration with Illumina and Lab personnel.
• Oversee and perform NGS library preparation for Illumina NovaSeq X sequence platform. Coordinate or aid in timely sample processing such as DNA isolations.
• Receive and log samples using a custom designed LIMS system, Supplies.
• Analyze Variant classification and aid in Report writing.
• Assist in preparation of research papers and grant applications.
• Present in Genetics Grand Rounds.
• Train and supervise new Research specialists, under-graduate/summer rotating students.
• Participate in lab meetings, journal club; attend relevant seminars and conferences.

Qualifications: Master of Science and 3 to 5 years of experience or equivalent combination of education and experience is required.