Case study: Diagnosis of a rare coexistence of two independent primary pediatric tumors using HPO-based gene panel in WES analysis.
The specification of the list of genes to be analyzed is of high importance in the NGS data analysis pipeline, as it determines the scope of the analysis. This is especially significant in the case of WES and WGS data, where multiple variants within the analyzed sample are expected to differ from the reference genome. […]
GRCh38: The golden standard in human genome assembly
A reference genome is a representation of a specific organism’s genetic material. It serves as a standard to compare and analyse genomic data obtained from different individuals of the same species. The Genome Reference Consortium (GRC) [1] has been responsible for the development of several assemblies of the human reference genome, with the latest version […]