21st Century Medicine (Scientific American Special Online by Scientific American PDF

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Extra resources for 21st Century Medicine (Scientific American Special Online Issue No. 30)

Example text

If medicine is the primary driver of widespread sequencing, however, we will be largely resequencing the human genome looking for minute variations in individuals’ DNA, and short readlengths will not be such a problem. Accuracy requirements will also be a function of the applications. 01 percent, because that still permits 600,000 errors per human genome. At the other end of the spectrum, high-error-rate (4 percent) random sampling of the genome has proved useful for discovery and classification of various RNA and tissue types.

Special care was also taken to protect the anonymity of the public genomes (the “human genome” we produced is a mosaic of several people’s chromosomes). But many of the really big questions remain, such as how to ensure privacy and fairness in the use of personal genetic information by scientists, insurers, employers, courts, schools, adoption agen- We have much work in a short time to get ready for LOW-COST GENOMES. ited by a slow physical or chemical process, such as electrophoresis or enzymatic reaction, or one that is not tightly packed in space and time, making every pixel count, will be correspondingly more costly to operate per unit DNA base determined.

When copies of the template strand whose sequence is unknown are washed across this array, they will bind to their complementary sequences. The best match produces the brightest fluorescent signal. Illumina also adds a base-extension step to this test of hybridization specificity. One final technique with great long-term promise takes an entirely different approach to identifying the individual bases 42 GEORGE M. S. Department of Energy Genome Technology Laboratory, and the National Institutes of Health Centers of Excellence in Genomic Science.

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21st Century Medicine (Scientific American Special Online Issue No. 30) by Scientific American


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