Bioinformatician A

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Posted Job Title

Bioinformatician A

Job Profile Title

Bioinformatician A

Job Description Summary

Bioinformatician supporting the Levin Lab in the Division of Cardiovascular Medicine. The position focuses on genomic data analysis, bioinformatics pipeline development, and computational analysis of large-scale biobank datasets to study cardiovascular disease genetics. Primary responsibilities include analyzing common and rare genetic variation from genome-wide association studies and sequencing data, developing genetic risk models integrating genomic and clinical data, identifying therapeutic targets and causal risk factors through genetic approaches, characterizing interactions between monogenic and polygenic risk, integrating multi-omics data (genomics, proteomics, transcriptomics), managing electronic health record data extraction and phenotyping, and creating reproducible computational workflows. The role requires proficiency in genomic data analysis tools, statistical programming (R, Python), high-performance computing environments, and version control systems. The candidate will collaborate with cardiovascular researchers, clinicians, and statisticians to translate genetic discoveries into clinical applications and contribute to manuscript preparation, presentation of findings, and grant writing.

Job Description

This position is contingent upon favorable funding.

Job Responsibilities

• Analyze common and rare genetic variation from large-scale biobanks (eg. VA Million Veteran Program, Penn Medicine Biobank) using genome-wide association, gene-based tests, and burden test approaches. Apply quality control procedures and genetic analysis tools (e.g., bcftools, PLINK, SAIGE, GCTA).
• Develop and validate genetic risk models for cardiovascular diseases integrating genomic and clinical data across diverse populations. Methods include polygenic risk scores, rare variant burden scores, and integrative prediction models. Evaluate model performance and clinical utility.
• Identify therapeutic targets and causal risk factors for cardiovascular diseases using genetic approaches. Apply causal inference (e.g., Mendelian randomization) and statistical methods (eg. colocalization, genetic correlation) to assess relationships between molecular traits, risk factors, and disease outcomes.
• Characterize interactions between monogenic and polygenic risk in cardiovascular diseases. Analyze how rare pathogenic variants modify polygenic risk and disease penetrance. Integrate rare and common variant burden in risk prediction models.
• Extract, curate, and analyze electronic health record (EHR) data including ICD codes, laboratory values, medications, and clinical phenotypes. Develop and validate phenotyping algorithms.
• Develop and maintain computational pipelines and workflows using workflow management systems (e.g., Nextflow, Snakemake). Implement version control with Git/GitHub and ensure reproducibility of analyses.
• Prepare manuscripts, generate figures and tables, and write methods sections describing bioinformatic analyses. Present findings at lab meetings and research conferences.
• Contribute to grant proposals by developing analysis plans, preparing preliminary data, and writing methods sections for computational and genomic analyses.
• Other duties and responsibilities as assigned.

Qualifications

• Bachelor of Science and 3 to 5 years of experience or equivalent combination of education and experience is required.

Job Location - City, State

Philadelphia, Pennsylvania

Department / School

Perelman School of Medicine

Pay Range

$57,500.00 - $89,965.98 Annual Rate Salary offers are made based on the candidate's qualifications, experience, skills, and education as they directly relate to the requirements of the position, and in alignment with salary ranges based on external market data for the job's level. Internal organization and peer data at Penn are also considered.

To apply, visit https://wd1.myworkdaysite.com/en-US/recruiting/upenn/careers-at-penn/job/Smilow-Center-for-Translational/Bioinformatician-A_JR00114604