This advanced theoretical course builds substantially on the foundational knowledge acquired in Semester 1, focusing on the principles of experimental design, advanced analysis concepts, and critical interpretation of computational results in clinical and research contexts.
The curriculum emphasizes variant interpretation frameworks, including ACMG/AMP guidelines for clinical variant classification, functional prediction algorithms (SIFT, PolyPhen-2, CADD), and the use of clinical databases such as ClinVar, OMIM, and COSMIC. Students learn to assess variant pathogenicity, evaluate the strength of evidence, and understand the limitations of computational predictions.
The course covers the theory underlying RNA-seq differential expression analysis, including normalization methods, statistical testing approaches, and multiple testing correction. Pathway enrichment analysis, gene ontology analysis, and integration of multi-omics datasets are explored in depth.