Research Associate

Position Summary

The Department of Obstetrics & Gynecology at Columbia University Irving Medical Center seeks a Temporary Research Associate to support ongoing development of the genotype-phenotype repository. The Research Associate will provide research support for the ClinGen project focused on severe fetal anomalies. Responsibilities include reviewing scientific literature and extracting standardized data using specialized software to generate phenopackets. This is a fully remote, temporary position supporting time sensitive project needs.

Responsibilities

Literature Review & Data Extraction – 40%

• Assist in reviewing scientific literature related to severe fetal anomalies.
• Extract relevant genotype and phenotype information using established guidelines and tools.
• Support data entry and organization in accordance with project protocols.

Phenopacket Generation Support – 40%

• Assist in generating phenopackets (v2 JSON format) by mapping clinical and genomic data to standardized terms (e.g., Human Phenotype Ontology).
• Follow established workflows to ensure data is entered accurately and consistently.
• Work closely with team members to support data standardization efforts.

Data Quality & Project Coordination – 20%

• Perform basic quality checks on curated data and flag discrepancies for review.
• Maintain organized records of completed work and follow documentation standards.
• Support project timelines by completing assigned tasks in a timely manner and communicating progress to the team.

Minimum Qualifications

• High School diploma with six months related experience

Preferred Qualifications

• Strong computer skills, including proficiency in Microsoft Office Suite (Word, Excel, etc).