Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics

摘要: Although targeted sequencing by next-generation (NGS) technology has gained much attention in the field of molecular diagnostics, several limitations have delayed its application to medical genetics. It is difficult standardize procedures because use various platforms and target enrichment methods, which are updated rapidly. The cutoff thresholds for accurate variant identification, including minimum read depth, range percentage compared with wild type, quality score, not been fully defined. Variable coverage depth across regions misalignment between homologous sequences or pseudogenes may also affect accuracy data. fast falling cost rapid development NGS analyzing bioinformatics pipeline make it possible gene panels, whole exome (WES), genome (WGS) clinical diagnoses. However, there many challenges developing implementing use. Understanding these can help diagnostic professionals ordering health better gauge utility tests interpretation results. a complex challenging steps need be carried out complete test generate clinically useful interpretations.