Structural variants (SVs) are large genomic alterations which can be implicated in disease. This project will focus on using novel genomic techniques to identify structural variants in genomic cold cases with neurological disorders. These “cold” cases which have previously remained unsolved with standard genomic approaches. We will use optical genome mapping and long read sequencing, together with novel bioinformatic techniques to detect and analyze structural variants.

This is an UNPAID research project.

Faculty Advisor

  • Professor: Isabelle Schrauwen
  • Center/Lab: Neurology
  • Location: NewYork-Presbyterian Columbia University Irving Medical Center, 630 West 168th Street, NYC, NY; 19th floor
  • Our research focuses on examining the genetic basis and pathogenic mechanisms of sensory and neurological disorders. We implement both family-based and population-based methods to identify genetic factors involved in various forms of hereditary diseases.

Project Timeline

  • Earliest starting date: 3/1/2022
  • End date: 8/31/2022
  • Number of hours per week of research expected during Spring/Summer 2022: ~10
  • Number of hours per week of research expected during Summer 2022: ~15-20

Candidate requirements

  • Skill sets: R/Python
  • Student eligibility: freshman, sophomore, junior, senior, master’s
  • International students on F1 or J1 visa: eligible
  • Academic Credit Possible: Yes