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Whole genome sequencing

life science Maturity 9-11 Next article →

Every living thing has a special code called DNA.

Human karyotype with bands and sub-bands
Human karyotype with bands and sub-bands

This code is kept inside the cells of your body. Most of it sits in the nucleus, but some is in the mitochondria. DNA looks like a long, coiled spiral staircase. The steps of this staircase are made of four tiny molecules called bases. These bases always pair up in a specific way. Adenine always pairs with thymine, and guanine always pairs with cytosine. Whole genome sequencing is the way scientists read this entire code at once.

Haemophilus influenzae 01
Haemophilus influenzae 01

This process helps us understand how life works.

To read the code, scientists often use a method called shotgun sequencing. This starts by breaking the long DNA strands into many small fragments. Scientists then sequence these small pieces one by one. They use computer programs to find where the pieces overlap. These overlapping parts act like a puzzle. By matching the ends, the computer can build the original long sequence.

ABI PRISM 3100 Genetic Analyzer 3
ABI PRISM 3100 Genetic Analyzer 3

Some newer ways, like long-read sequencing, read much larger chunks of DNA. This helps scientists read through parts of the code that repeat many times. Reading these repeating parts is a hard job for older methods.

Scientists have been working on this for many years. In the 1970s and 1980s, the work was done by hand. They used manual methods like Sanger sequencing. By the 1990s, machines made the work much faster and automated.

Chromatogram
Chromatogram

In 1992, scientists fully sequenced a single chromosome from yeast. The first time a whole organism was sequenced was in 1995. That organism was a bacterium called Haemophilus influenzae. Since then, many different living things have been mapped by researchers.

There are many important milestones in this history. The first animal to have its whole genome sequenced was the worm Caenorhabditis elegans in 1998.

C. elegans
C. elegans

In the year 2000, scientists sequenced the fruit fly, Drosophila melanogaster. They also finished the first plant genome, Arabidopsis thaliana, in 2000.

Drosophila melanogaster - front (aka)
Drosophila melanogaster - front (aka)

The genome for the lab mouse, Mus musculus, was published in 2002.

54986main mouse med
54986main mouse med

Humans have about 3.2 billion nucleotide pairs in their cells. This is much larger than the 1,830,140 base pairs found in the first bacterium.

Today, this science is used in many ways. Scientists can find DNA in saliva, hair, or even old bones.

Arabidopsis thaliana inflorescencias
Arabidopsis thaliana inflorescencias

They use this data to study how life changes over time. In the future, it might help doctors choose the best medicine for you. This is called personalized medicine. We are even reaching a goal called telomere-to-telomere sequencing. This means reading the DNA from one end to the very other end. A complete human version of this was published in 2022.

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🖼️ Images & Media (10)
File:Chromatogram.jpg
Chromatogram.jpg
File:Human karyotype with bands and sub-bands.png
Human karyotype with bands and sub-bands.png
File:Haemophilus influenzae 01.jpg
Haemophilus influenzae 01.jpg
File:C. elegans.jpg
C. elegans.jpg
File:Drosophila melanogaster - front (aka).jpg
Drosophila melanogaster - front (aka).jpg
File:Arabidopsis thaliana inflorescencias.jpg
Arabidopsis thaliana inflorescencias.jpg
File:54986main mouse med.jpg
54986main mouse med.jpg
File:Elaeis guineensis MS 3467.jpg
Elaeis guineensis MS 3467.jpg
File:ABI PRISM 3100 Genetic Analyzer 3.jpg
ABI PRISM 3100 Genetic Analyzer 3.jpg
File:Historic cost of sequencing a human genome.svg
Historic cost of sequencing a human genome.svg
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