Suzanne de Bruijn

49 The impact of modern technologies on molecular diagnostics Sanger sequencing Gene A Targeted sequencing Advantages + Accuracy + Costs (< 20 amplicons) + Tunaround time Disadvantages - Capacity - Costs (>20 amplicons) - Throughput Gene A Advantages + Applicability + Costs + Throughput Disadvantages - Coverage and mapping - Data interpretation - Structural variant detection Gene B Gene C Short read sequencing WES WGS Illumina whole exome sequencing Advantages + Coverage and mapping + De novo assembly + Structural variant detection Disadvantages - Accuracy - Costs - Library preparation Long read sequencing Gene A Gene B Gene C SMRT sequencing Nanopore sequencing Illumina whole genome sequencing A First generation sequencing B Next generation sequencing C Third generation sequencing Figure 3. Comparison of conventional Sanger, next generation, and third generation sequencing. A schematic representation of (A) first generation sequencing (Sanger sequencing), (B) next generation sequencing (e.g. Illumina whole genome sequencing (WGS) and whole exome sequencing (WES)) and (C) third generation sequencing (e.g. SMRT sequencing as performed by Pacific Biosciences (PacBio) and nanopore sequencing by Oxford Nanopore Technologies (ONT)). For each technique, advantages (green) and disadvantages (red) are provided.