Next-Generation Sequencing Technologies
Level 5 - mechanism / opinion, no new human data
Narrative review without original empirical data or systematic review methodology (CEBM Level 5).
OpenAlex W2903458588 · doi:10.1101/cshperspect.a036798
What was done
This narrative review summarizes the history, technological evolution, and biological and clinical applications of massively parallel next-generation sequencing over its first ten years of commercial availability.
What was found
The abstract reports that sequencing the initial haploid human reference genome took nearly 10 years, whereas a full diploid human genome can now be completed in a few days. The field has largely used short reads of approximately 150 base pairs, while emerging platforms produce long multikilobase reads that facilitate reference-independent genome assemblies and long-range haplotype generation. No experimental trial data, error rates, or specific cost figures are reported in the abstract.
Why it matters
The paper outlines how high-throughput, lower-cost sequencing transitioned from an experimental research method into routine biological investigation and clinical diagnostics.
Limits
This is an unstructured narrative review containing no original data, sample sizes, or systematic search protocols. It lacks quantitative benchmarking, error rate comparisons, and head-to-head platform evaluations.
Cited by
- supports The cost of sequencing a whole human genome has decreased from approximately one billion dollars to around $300.