AB149. Long-range PCR sequencing as a novel approach in genetic—analysis of MYH3: a preliminary result

Background and objective Genetic diagnosis of large genes are usually complicated by large transcript size, complexity of the gene region and the high level of gene variations. Long-range PCR is a flexible, fast, efficient and cost-effective choice for sequencing large candidate genomic regions, especially when combined with next-generation sequencing (NGS) platforms. This article aims to develop and optimise novel mutation screening assay for MYH3 gene which is 40 kb in size by directly sequencing four LR-PCR products using Illumina MiSeq sequencing platform.