The business problem is to develop world-class genetics and genomics research, focusing on finding the right targets and helping AbbVie better understand human disease biology and the behavior of and response to their drugs in clinical trials.
Requirements
- Proficient in programming languages (R or Python)
- Have experience performing variant annotation and prioritizing variants based on their annotations
- Strong quantitative and analytical skills
Responsibilities
- 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.
Other
- Currently enrolled in university, pursuing a PhD in Genome sciences, Bioinformatics, Biostatistics, Human genetics, Computer Science or other related fields
- Must be enrolled in university for at least one semester following the internship
- Expected graduation date between December 2026 – July 2027
- Strong written and verbal communication skills
- Self-directed and able to work with minimal supervision