12 October 2017, Nature, Vol 550, 179-181
Authors: Eric D. Green, Edward M. Rubin, and Maynard V. Olson
Bring home messages:
1. Many ways to sequence DNA.
By 1985, DNA was sequenced with the Sanger or dideoxy chain-termination method, which the reaction products were labeled with radionucleotides, separated on acrylamide slab gels, and detected with the use of X-ray or photographic film (autoradiography) to detect the radiolabelled samples.
By 2000, it started to use the four-color-fluorescence method, which the reaction projects were labeled with chain-terminating nucleotide analogs, separated electrophoretically in capillaries filled with a jelly-like media, and detected with energy-transfer fluorescent dyes.
By 2010, the sequencing was based on massively parallel analyses of DNA polonies (clonal amplification of a single DNA molecule) and on sequencing-by-synthesis chemistries (they rely on reversible chain-terminators).
For now on, there are two kinds of DNA sequencing platform. First, the goal to identify every base correctly which applicable in oncology and medical genetic fields. And second, the goal to run tests quickly and easily to identify the species.
2. The improvements in sequencing technology will increase the demand for prediction. As it becomes cheaper and more convenient, applications will proliferate easily from the research market into clinical, consumer and other domains.
3. Researchers are passionately and continually doing DNA sequencing for everyone (every living and extinct species) on Earth, and from every cell in every tissue at every developmental stage, in health, and in disease.
4. In clinical, there is a popular genetic test given to the pregnant women to detect the presence of an abnormal number of chromosomes, such as trisomy 21, which causes Down's syndrome. The test now relies on detecting the small amount of cell-free fetal DNA that circulates in the maternal blood, which is non-invasive, easy to perform and has a low requirement for nucleotide-level accuracy (chromosomes can be counted without assessing sequence variation).
5. In high-income countries, genome sequencing is used routinely to evaluate children with ill-defined congenital conditions.
6. In oncology, the development of liquid biopsies is on-going, which could possibly come out as a routine screening tool to detect cancer. It is somehow using the way to detect the DNA-sequence signatures of cancer's DNA in the blood, to give clues about which treatment should be used.
7. Global Virome Project.
A project which targets the low- and middle-income countries, with the aim to sequence numerous samples of wildlife DNA to identify a significant fraction of the viruses that can be transmitted into humans and cause disease.
8. There is possible to sequence the DNA of all the microorganisms in the waste-water outlets of entire cities to speed up the recognition of disease outbreaks.
9. Possible also to conduct systematic metagenomic studies to monitor the health of the oceans.
10. DNA analysis is not a new tool to facilitate the crime investigation.
11. In the home, could it be having DNA-sequencing appliances that having similar application as the "smart" or "connected" device? Or implement the real-time DNA analysis on every day's stool in the toilet to monitor family health.
12. It is recommended to unite the molecular and clinical data onto the germ-line genome sequences of millions of individuals, to facilitate the meta-informational interpretation of the whole big picture.
Original article: link
Authors: Eric D. Green, Edward M. Rubin, and Maynard V. Olson
Bring home messages:
1. Many ways to sequence DNA.
By 1985, DNA was sequenced with the Sanger or dideoxy chain-termination method, which the reaction products were labeled with radionucleotides, separated on acrylamide slab gels, and detected with the use of X-ray or photographic film (autoradiography) to detect the radiolabelled samples.
By 2000, it started to use the four-color-fluorescence method, which the reaction projects were labeled with chain-terminating nucleotide analogs, separated electrophoretically in capillaries filled with a jelly-like media, and detected with energy-transfer fluorescent dyes.
By 2010, the sequencing was based on massively parallel analyses of DNA polonies (clonal amplification of a single DNA molecule) and on sequencing-by-synthesis chemistries (they rely on reversible chain-terminators).
For now on, there are two kinds of DNA sequencing platform. First, the goal to identify every base correctly which applicable in oncology and medical genetic fields. And second, the goal to run tests quickly and easily to identify the species.
2. The improvements in sequencing technology will increase the demand for prediction. As it becomes cheaper and more convenient, applications will proliferate easily from the research market into clinical, consumer and other domains.
3. Researchers are passionately and continually doing DNA sequencing for everyone (every living and extinct species) on Earth, and from every cell in every tissue at every developmental stage, in health, and in disease.
4. In clinical, there is a popular genetic test given to the pregnant women to detect the presence of an abnormal number of chromosomes, such as trisomy 21, which causes Down's syndrome. The test now relies on detecting the small amount of cell-free fetal DNA that circulates in the maternal blood, which is non-invasive, easy to perform and has a low requirement for nucleotide-level accuracy (chromosomes can be counted without assessing sequence variation).
5. In high-income countries, genome sequencing is used routinely to evaluate children with ill-defined congenital conditions.
6. In oncology, the development of liquid biopsies is on-going, which could possibly come out as a routine screening tool to detect cancer. It is somehow using the way to detect the DNA-sequence signatures of cancer's DNA in the blood, to give clues about which treatment should be used.
7. Global Virome Project.
A project which targets the low- and middle-income countries, with the aim to sequence numerous samples of wildlife DNA to identify a significant fraction of the viruses that can be transmitted into humans and cause disease.
8. There is possible to sequence the DNA of all the microorganisms in the waste-water outlets of entire cities to speed up the recognition of disease outbreaks.
9. Possible also to conduct systematic metagenomic studies to monitor the health of the oceans.
10. DNA analysis is not a new tool to facilitate the crime investigation.
11. In the home, could it be having DNA-sequencing appliances that having similar application as the "smart" or "connected" device? Or implement the real-time DNA analysis on every day's stool in the toilet to monitor family health.
12. It is recommended to unite the molecular and clinical data onto the germ-line genome sequences of millions of individuals, to facilitate the meta-informational interpretation of the whole big picture.
Original article: link
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