Massive parallel sequencing

Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing. Some of these technologies emerged between 1993 and 1998 [1][2][3][4][5] and have been commercially available since 2005. These technologies use miniaturized and parallelized platforms for sequencing of 1 million to 43 billion short reads (50 to 400 bases each) per instrument run.

Many NGS platforms differ in engineering configurations and sequencing chemistry. They share the technical paradigm of massive parallel sequencing via spatially separated, clonally amplified DNA templates or single DNA molecules in a flow cell. This design is very different from that of Sanger sequencing—also known as capillary sequencing or first-generation sequencing—which is based on electrophoretic separation of chain-termination products produced in individual sequencing reactions.[6] This methodology allows sequencing to be completed on a larger scale.[7]

  1. ^ Nyren, P.; Pettersson, B.; Uhlen, M. (January 1993). "Solid Phase DNA Minisequencing by an Enzymatic Luminometric Inorganic Pyrophosphate Detection Assay". Analytical Biochemistry. 208 (1): 171–175. doi:10.1006/abio.1993.1024.
  2. ^ Ronaghi M, Karamohamed S, Pettersson B, Uhlén M, Nyrén P (November 1996). "Real-time DNA sequencing using detection of pyrophosphate release". Analytical Biochemistry. 242 (1): 84–89. doi:10.1006/abio.1996.0432. PMID 8923969.
  3. ^ Cite error: The named reference Adams was invoked but never defined (see the help page).
  4. ^ EP 0972081, Farinelli L, Kawashima E, Mayer P ), "Method of nucleic acid amplification", published 2007-06-13, assigned to Solexa Ltd. 
  5. ^ EP 0975802, Kawashima E, Farinellit L, Mayer P, "Method of nucleic acid sequencing", published 2004-06-23 
  6. ^ Voelkerding KV, Dames SA, Durtschi JD (April 2009). "Next-generation sequencing: from basic research to diagnostics". Clinical Chemistry. 55 (4): 641–658. doi:10.1373/clinchem.2008.112789. PMID 19246620.
  7. ^ Ballard D, Winkler-Galicki J, Wesoły J (July 2020). "Massive parallel sequencing in forensics: advantages, issues, technicalities, and prospects". International Journal of Legal Medicine. 134 (4): 1291–1303. doi:10.1007/s00414-020-02294-0. PMC 7295846. PMID 32451905.