Research Opportunity Number: LSI-03

Project Title: Decoding Human Genetic Variation in Human Health and Disease

Project Summary: Greater than 98% of the human genome is DNA that is outside of genes, where we do not have the genetic code to guide prediction of mutation impact. The goal of the project is to understand how disease mutations that occur in this noncoding portion of the genome translate into cell physiological phenotypes and disease. Our lab has developed deep learning-based, publicly available large-scale functional models of the human genome that predict the functional effect for any mutation in the human genome. (DeepSEA, DeepArk, Sei, ExPectoSC, and Seqweaver). 

The proposed summer project(s) will be to study the cell physiological impact of 1-3 of mutations associated with diseases our lab is interested in (e.g., breast cancer, autism) using the model predictions as a guide. Students will work with a mentor and use established lab assays.

Student Roles and Responsibilities: Show up on time, be courteous and respectful of all lab members, ask questions - always! Come to the lab wanting to learn and do not be afraid to ask questions, and in turn, share information with lab mates. Students are expected to make good faith efforts at lab work. No prior experience is necessary, but an open inquisitive mind and active communication are required. Adherence to safety measures is a priority.

Techniques used will include DNA isolation, molecular cloning, interpretation of Sanger sequencing, CRISPR base editing, agarose gel electrophoresis.

Additional Considerations: This project should require about 30 to 40 hours each week. 

Department/Institute: Genomics/Lewis Sigler Institute of Integrative Genomics

Participation Dates: June 25 – August 6, 2025

Stipend Offered: $0

Number of Internships Available: 0-2

Application Deadline: March 15, 2025, midnight Eastern Daylight Time