Envision spending your summer working with energetic colleagues and inspirational leaders, all while gaining world-class experience in one of the most dynamic organizations in the pharmaceutical industry. This is a reality for AbbVie Interns.  

The Genomics Research Center (GRC) plays an integral role towards the goal of developing world class genetics and genomics research, focusing on finding the right targets and helping us better understand not only human disease biology but also the behavior of and response to our drugs in clinical trials. Within the GRC, the Human Genetics (HG) team assists in the identification and characterization of underlying genetic factors associated with diseases and aims to understand the mechanism of drug response through quantitative analyses. Major focuses include new target discovery via genetic evidence from population-based studies, large biobanks, molecular phenotypes, and deeper investigation of targets through functional genomics. This internship will focus on comparing and leveraging variant annotation tools (e.g., VEP, FAVOR, RegulomeDB, SpliceAI, AlphaGenome) and databases to annotate variants from real sequencing datasets, with the goal of prioritizing those most likely to have functional impact in association studies. 

Key responsibilities include: 

• Survey and compare major variant annotation tools (e.g., VEP, SnpEff, ANNOVAR). 
• Compare the gene and transcript lists of humans in RefSeq and Ensembl/GENCODE. 
• Explore and integrate multi-source annotations (e.g., ClinVar, HGMD, splice-disrupting variants in SpliceAI, functional scores in FAVOR, AlphaMissense & AlphaGenome, and regulatory features). 
• Annotate the variants in a WGS project using selected tools and support/conduct association analysis.