Bioinformatics, interpretation and data quality assurance in genomic analysis (for CPPD)

Scientist working in a lab with biological samples

Students will also critically assess the challenges of managing large genomic datasets and the role of databases in variant annotation. This module covers the fundamental principles of bioinformatics with a focus on its impact in both clinical genomics and in research. Students will gain hands-on experience in analysing sequencing data, including quality assessment, alignment to reference genomes, variant calling, and annotation. They will also learn to apply computational skills and statistical methods to handle large genomic datasets and critically evaluate the use of different databases for variant annotation. Through a combination of theoretical sessions and practical exercises, students will develop the essential skills to analyse and interpret genomic data, preparing them to address current and future challenges in managing and using large-scale genomic information in clinical and research settings

The module is delivered through both lectures and hands-on practical sessions, and employs real data to illustrate the application of systems biomedicine approaches in genomic medicine.

For information on other modules, go to the Cambridge Genomic Medicine Programme: modular study.