Application Note: Comparison of Custom Designed KASP and TaqMan Genotyping Assays for a Rare Genetic Variant Identified Through Resequencing GWAS Loci
14 January 2016

A next-generation sequencing (NGS) study was undertaken to uncover rare variants surrounding the gene loci associated with the complex neurodegenerative dementia Alzheimer’s disease. Following functional annotation with in silico databases, several variants were prioritized for direct genotyping in case and control samples to gather further support for their potential role as the functional variant responsible for the GWAS signal. This application note evaluates the effectiveness of two genotyping technologies, TaqMan and KASP, for successful design of custom genotyping assays for one of the rare deleterious missense coding variants identified in the NGS study.