Browse Hierarchy WHR7206: Bioinformatics, Interpretation, and Data Quality Assurance in Genome Analysis

Students will learn to handle sequence files from exome and / or whole genome sequencing (e.g. BAM files), apply quality control filters to remove outliers, call variants, annotate variants for functional consequences (e.g. PolyPhene 2 is an algorithm for predicting the impact of amino acid changes on protein stability and function) and finally apply different filtering strategies using publicly available control data sets (e.g. 1000 Genomes Project) to identify pathogenic mutations. The module will cover a wide range of statistical and bioinformatics techniques and tools such as: - R package - PLINK - GATK The module will also cover the use of databases and literature searches to critically assess and annotate findings of genetic and genomic analyses. Theoretical sessions will be coupled with practical assignments of analysing and annotating predefined data sets.