Bioinformatician A

University of Pennsylvania•Philadelphia, PA

12d

About The Position

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. This position is contingent upon favorable funding.

Requirements

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

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.

Benefits

Health, Life, and Flexible Spending Accounts: Penn offers comprehensive medical, prescription, behavioral health, dental, vision, and life insurance benefits to protect you and your family’s health and welfare. You can also use flexible spending accounts to pay for eligible health care and dependent care expenses with pre-tax dollars.
Tuition: Take advantage of Penn's exceptional tuition benefits. You, your spouse, and your dependent children can get tuition assistance here at Penn. Your dependent children are also eligible for tuition assistance at other institutions.
Retirement: Penn offers generous retirement plans to help you save for your future. Penn’s Basic, Matching, and Supplemental retirement plans allow you to save for retirement on a pre-tax or Roth basis. Choose from a wide variety of investment options through TIAA and Vanguard.
Time Away from Work: Penn provides you with a substantial amount of time away from work during the course of the year. This allows you to relax, take vacations, attend to personal affairs, recover from illness or injury, spend time with family—whatever your personal needs may be.
Long-Term Care Insurance: In partnership with Genworth Financial, Penn offers faculty and staff (and your eligible family members) long-term care insurance to help you cover some of the costs of long-term care services received at home, in the community or in a nursing facility. If you apply when you’re newly hired, you won’t have to provide proof of good health or be subject to underwriting requirements. Eligible family members must always provide proof of good health and are subject to underwriting.
Wellness and Work-life Resources: Penn is committed to supporting our faculty and staff as they balance the competing demands of work and personal life. That’s why we offer a wide variety of programs and resources to help you care for your health, your family, and your work-life balance.
Professional and Personal Development: Penn provides an array of resources to help you advance yourself personally and professionally.
University Resources: As a member of the Penn community, you have access to a wide range of University resources as well as cultural and recreational activities. Take advantage of the University’s libraries and athletic facilities, or visit our arboretum and art galleries. There’s always something going on at Penn, whether it’s a new exhibit at the Penn Museum, the latest music or theater presentation at the Annenberg Center, or the Penn Relays at Franklin Field to name just a few examples. As a member of the Penn community, you’re right in the middle of the excitement—and you and your family can enjoy many of these activities for free.
Discounts and Special Services: From arts and entertainment to transportation and mortgages, you'll find great deals for University faculty and staff. Not only do Penn arts and cultural centers and museums offer free and discounted admission and memberships to faculty and staff. You can also enjoy substantial savings on other goods and services such as new cars from Ford and General Motors, cellular phone service plans, movie tickets, and admission to theme parks.
Flexible Work Hours: Flexible work options offer creative approaches for completing work while promoting balance between work and personal commitments. These approaches involve use of non-traditional work hours, locations, and/or job structures.
Penn Home Ownership Services: Penn offers a forgivable loan for eligible employees interested in buying a home or currently residing in West Philadelphia, which can be used for closing costs or home improvements.
Adoption Assistance: Penn will reimburse eligible employees on qualified expenses in connection with the legal adoption of an eligible child, such as travel or court fees, for up to two adoptions in your household.