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| Automated DNA Sequencing —Dr. Ashok Pandey, Biotech Research Society of India |
| Wednesday, 17 September 2008 | |
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"There could be several advantages for a cost-effective high throughput
sequencing process and most importantly it can leap us forward into an
era of personal genomes!"
The Sanger method (dideoxy chain termination) of DNA sequencing was developed almost three decades back is still the most common method used for DNA sequencing. The dye-terminator method has allowed automation of sequencing to a large extent and most of the DNA sequencers are using this method for DNA sequencing. There could be several advantages for a cost-effective high throughput sequencing process and most importantly it can leap us forward into an era of personal genomes! The implications of such a possibility are tremendous, which include design of preventive medicine, hypothesis testing of genotype/phenotype relationships, gene expression profiling at various developmental stages, determination of mutations, profiling tumors for diagnosis and prognosis, rapid identification of pathogens, analysis of microbial diversity to attain agricultural, environmental, and therapeutic goals. The demand for cost effective, high throughput sequencing strategies has led to the development of several novel technologies in this field. Many of the new high throughput methods are in use that parallelize the sequencing process, producing thousands and probably millions of sequences at once. In addition to in-vitro clonal amplification and parallelized sequencing, there are other technologies such as sequencing by hybridization, mass spectrometry, or even microscopy based methods like AFM and electron microscopy. More and more developments are taking place in the field of DNA sequencing with the advancement of technology and with the increasing demand for personal genomes. One of the major challenges will also be the integration of platforms and the development of software for analysis of sequence reads generated by newer technologies. While the cost of genome sequencing is still far from affordable to think of a personal genome, it is definitely coming down, and the throughput is rapidly improving, indicating that we are not too far from achieving that USD 1000 genome, bringing genome sequence in the realm of routine medical procedures. |
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DNA sequencing methodologies have revolutionized the way we look at a range of issues as diverse as medical diagnostics to microbial community genetics. However, the applications of this technology are largely limited by the cost of operation as well as the throughput. From its inception, DNA sequencing technology has continuously evolved and through years of effort, significant progress has been achieved in throughput and cost-savings. Nevertheless, DNA sequencing is still not affordable for most of the labs. It is an ambitious goal of industry and academics alike to produce a USD 1000 genome. While electrophoresis based technologies still remain the method of choice for obtaining long sequence reads, which are desired especially for de novo genomic sequencing, non-electrophoresis based methods are also evolving for high-throughput sequence sampling projects, in which read length and accuracy are not so important. There are certain radical concepts emerging which include "sequencing by synthesis" and "nanopore sequencing", both of which have their own advantages and disadvantages. With the increased enthusiasm in this area, we can hope for a
USD 1000 genome in near future.

