Long Read Sequencing Industry: Unraveling the Genetic Code Global Adoption and Advancements in Long Read Sequencing Technology
History and Development of Long Read Sequencing Industry
The first long read sequencing technologies were developed in the early 2000s as an alternative to the short read technologies that were dominating the field at the time like Sanger sequencing and next-generation sequencing platforms. The key limitation of short read technologies is their inability to sequence through repetitive regions in genomes which can fragment assemblies. Early efforts to develop long read technologies included Single Molecule Real Time (SMRT) sequencing from Pacific Biosciences which was first commercialized in 2011. About the same time, Oxford Nanopore Technologies began work on a nanopore based sequencing technique and released their first commercial product, the MinION, in 2014. Since those early introductions, both companies have continued advancing their platforms to produce longer reads at higher throughput and lower cost.
Advantages of Long Reads for Genome Assembly and Structural Variant Detection
One of the major advantages of Global Long Read Sequencing technologies is their ability to generate much longer sequence reads, typically ranging from 10kb to over 100kb in length. This length is significantly longer than the typical 150-300bp short reads produced by Illumina sequencers. The longer reads allow sequencing through repetitive regions in genomes that often fragment assemblies with short reads. Long reads allow generating more complete, contiguous genome assemblies with fewer gaps. They also facilitate assembly of complex genomes with high repeat content much more effectively than short reads. In addition, long reads are better suited for resolving structural variants like inversions, translocations and copy number variations (CNVs) compared to short read technologies. This is because structural variants, especially those involving repetitive sequences, are difficult to detect from short fragments alone
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