AbbVie's Genomics Research Center (GRC) aims to develop world-class genetics and genomics research to identify targets and understand disease biology and drug response. This internship focuses on comparing and leveraging variant annotation tools and databases to prioritize variants with functional impact in association studies.
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
- Strong written and verbal communication skills
- Self-directed and able to work with minimal supervision
- Energetic and eager to tackle new projects and generate new ideas
