• Job Type: Short Term Casual
• Bargaining Unit:
• Regular/Temporary: Temporary
• End Date if Temporary: 09/01/2025
• Hours Per Week: 10
• Standard Work Schedule:
• Building:
• Salary Range: $22.00 - $24.00

Position Summary

The Department of Pediatrics is seeking a Short-Term Casual (non-student) to join our team in a temporary part time position to work within the Posey research laboratory in the Division of Clinical Genetics. The research project is focused on computational phenotyping and genotype–phenotype analysis in rare disease genomics. The project will leverage data generated through the multi-institutional GREGoR Consortium, an NIH/NHGRI-funded program aimed at improving molecular diagnosis and biological understanding of rare and undiagnosed conditions.

The individual will work with large-scale clinical and genomic datasets to evaluate how structured phenotype data—particularly terms from the Human Phenotype Ontology (HPO)—can be used to better characterize rare disease patients and support improved genotype–phenotype discovery. The individual will assist in assignment of human phenotype terms to individual rare disease cases, analysis of these terms, and investigation of methods to improve automated phenotype term assignment.

The Department of Pediatrics at the Vagelos College of Physicians & Surgeons of Columbia University is a world leader in providing care for children. Our mission areas include Healthcare, Education and Research. The Department of Pediatrics is committed to innovation and excellence in clinical medicine, education, research, community health, global health, and the development of our faculty and staff.

Responsibilities

• Review and curate phenotype data: Examine and organize Human Phenotype Ontology (HPO) annotations across cases within the GREGoR Consortium dataset to assess patterns of phenotypic data capture across participating research centers.
• Perform data exploration and quality assessment: Evaluate the number, specificity, and distribution of HPO terms recorded per case and identify patterns of phenotyping completeness or variability across datasets.
• Conduct statistical analyses: Perform quantitative analyses to determine how the number and types of phenotype terms influence downstream analytical utility for genotype–phenotype and gene–phenotype studies.
• Support computational phenotyping analyses: Assist with development or testing of analytic approaches to structured phenotype representation, potentially incorporating machine learning or data science methods.
• Assist with genotype–phenotype interpretation: Contribute to exploratory analyses examining how structured phenotypic information can improve interpretation of genomic findings in rare disease cohorts.
• Document methods and results: Maintain organized records of analytic workflows, datasets used, and preliminary results to support reproducibility and collaborative research.
• Participate in laboratory activities: Attend and contribute to weekly laboratory meetings, engage with trainees and faculty in the research group, and present progress updates during the summer program.
• Prepare a final project summary: Develop a brief written report or presentation summarizing project goals, analytical approaches, and key findings at the conclusion of the rotation.
• Performs related duties & responsibilities as assigned/requested.

Minimum Qualifications

• High School Graduate or Equivalency required.

Preferred Qualifications

• Bachelor's Degree.

Other Requirements

• Strong organizational, communication & interpersonal skills.
• Proficiency in Microsoft Excel.

Equal Opportunity Employer / Disability / Veteran

Columbia University is committed to the hiring of qualified local residents.