Fig. 1

Overview of short-read and long-read sequencing technologies. A Examples of widely used platforms for short-read and long-read sequencing technologies. B The primary difference between short-read and long-read sequencing technologies is the significant increase in read length. In contrast to short-read sequencing (150–300 bp), long-read sequencing has the capacity to sequence reads spanning multiple kilobases in one single read, thereby requiring fewer reads to cover the same gene. The read overlap seen with long-read data reduces the sequence gaps as observed in short-read data. C Semi-quantitative comparison of short-read and long-read sequencing of various features including the ability to detect single nucleotide variants (SNVs), structural variants, and complete genome phasing, as well as the overall read length, accuracy, throughput, and sequencing cost