Genome sequencing is figuring out the order of DNA nucleotides, or bases, in a genome—the order of As, Cs, Gs, and Ts that make up an organism’s DNA. The human genome is made up of over 3 billion of these genetic letters.
Today, DNA sequencing on a large
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scale—the scale necessary for ambitious projects such as sequencing an entire genome—is mostly done by high-tech machines. Much as your eye scans a sequence of letters to read a sentence, these machines “read” a sequence of DNA bases.
A DNA sequence that has been translated from life’s chemical alphabet into our alphabet of written letters might look like this:
Application of genome sequencing:
- Identification of diseases. Whole-genome sequencing is the natural next step: it can survey exonic regions that are poorly captured, and be used to detect structural variants.
- One of the great promises of genomic research is personalized medicine: tailoring disease treatments to an individual’s genetic makeup.
- Fatal disease like cancer can be cured if more research is done on genetic make up.
- Identification of family disease pedigrees.
- well-phenotyped cohorts have always been in high demand for genetic studies.