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, CLEVER, 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 lab wanting to learn and not 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.

Additional Considerations:  ~30~40 h/wk

Department/Institute: Lewis-Sigler Institute for Integrative Genomics

Faculty Sponsor: Olga Troyanskaya

Participation Dates: 6/26/2024 to 8/7/2024

Stipend Offered: $0

Number of Internships Available: 0-2

Application Deadline: March 15, 2024, midnight eastern daylight time