The IGM has performed diagnostic whole exome or whole genome sequencing on more than 5000 CUIMC patients with presentations including undiagnosed diseases of childhood, chronic kidney disease, fetal anomalies and neurological diseases (with a focus on epilepsy) among many others. These patients have been analyzed with a standardized diagnostic pipeline to identify single genotypes that are responsible for disease. Diagnostic genotypes are those that are considered to be likely contributing to the patient’s presentation through study team consensus (a multidisciplinary team that includes population geneticists, molecular geneticists, clinicians, genetic counselors, bioinformaticians and analysts). The student will be expected to 1) build an easy-to-use interface and secure database for variant records and phenotype information, and 2) implement a web interface to facilitate variant submission to ClinVar which is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.

Selected candidate(s) can receive a stipend directly from the faculty advisor. This is not a guarantee of payment, and the total amount is subject to available funding.

Faculty Advisor

  • Professor: Ali Gharavi
  • Center/Lab: Institute for Genomic Medicine
  • Location: CUIMC
  • The Institute for Genomic Medicine (IGM) is establishing a cohesive, Columbia-wide research and teaching environment for human genetics and genomics. Working with the university and our partners, IGM is driving innovation in genomic medicine through vibrant research, clinical applications and outreach efforts. Our genetics environment offers the benefits of scale and expertise that facilitates the integration of genomic analysis across the Columbia community.

Project Timeline

  • Earliest starting date: 3/1/2022
  • End date:
  • Number of hours per week of research expected during Spring/Summer 2022: ~10
  • Number of hours per week of research expected during Summer 2022: ~35

Candidate requirements

  • Skill sets: Fluent in at least one programing language (R, Python, Perl, Java), at least one course in statistics and knowledge in genetics.
  • Student eligibility: freshman, sophomore, junior, senior, master’s
  • International students on F1 or J1 visa: eligible
  • Academic Credit Possible: Yes