A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

摘要: The advent of massive parallel sequencing is rapidly changing the strategies employed for genetic diagnosis and research rare diseases that involve a large number genes. So far it not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. current yield this traditional diagnostic approach depends on complex factors include gene-specific phenotype traits, relative frequency involvement specific To gauge impact paradigm shift occurring in molecular diagnostics, we assessed Sanger-based (in 2011) exome followed targeted bioinformatics analysis 2012) five different conditions are highly heterogeneous, which our center provides diagnosis. We find has much higher Sanger deafness, blindness, mitochondrial disease, movement disorders. For microsatellite-stable colorectal cancer, was low under both strategies. Even if all genes could have been ordered physicians had tested, larger captured would still led to clearly superior at fraction cost.