Nepedia
Back to Discover
Advanced Reader
🧬

Whole genome sequencing

life science Maturity 9-11 Next article →

Whole genome sequencing (WGS) is the process of determining the entire DNA sequence of an organism's genome at a single time. The genome is the complete set of genetic instructions for a living thing. This process includes sequencing all chromosomal DNA found in the cell nucleus. It also includes DNA located in the mitochondria. For plants, WGS involves sequencing the DNA found in chloroplasts as well.

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

Understanding the full sequence is vital for modern biology. It helps researchers study how life evolves and how different species are related.

To understand the mechanism, we must look at the structure of DNA. DNA, or deoxyribonucleic acid, is a long, coiled double helix that looks like a spiral staircase. The sides of this staircase are made of sugar and phosphate molecules. The steps are made of four chemical bases: adenine, thymine, guanine, and cytosine. These bases always pair together using hydrogen bonds. Adenine always pairs with thymine, while guanine pairs with cytosine.

Chromatogram
Chromatogram

A gene is a specific segment of this DNA that provides the code to build proteins or RNA molecules. The specific order of these bases acts as the code for life.

Scientists use several different methods to read these sequences. One common approach is shotgun sequencing. This method involves breaking the long DNA strands into many small fragments. Scientists sequence these fragments and then use computer programs to piece them back together. This is similar to solving a massive puzzle where the overlapping edges of the pieces show how they fit.

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

Another method involves sequencing larger DNA clones from libraries, such as bacterial artificial chromosomes (BACs) or yeast artificial chromosomes (YACs). Newer technologies, called high-throughput or next-generation sequencing, allow for much faster work. These include methods like Illumina dye sequencing, pyrosequencing, and SMRT sequencing.

History shows how much this technology has changed. In the 1970s and 1980s, sequencing was a manual process. Scientists used methods like Maxam–Gilbert and Sanger sequencing to read small parts of genomes. The shift to automated capillary sequencers in the 1990s allowed for much larger projects.

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

In 1976, the first virus genome, Bacteriophage MS2, was sequenced. By 1992, scientists fully sequenced the third chromosome of yeast. In 1995, the bacterium Haemophilus influenzae became the first entire organism to have its genome fully sequenced.

Haemophilus influenzae 01
Haemophilus influenzae 01

Many important organisms have been mapped since those early days. The nematode worm, Caenorhabditis elegans, was the first animal to be sequenced in 1998.

C. elegans
C. elegans

In 2000, the fruit fly Drosophila melanogaster and the plant Arabidopsis thaliana were both sequenced.

Drosophila melanogaster - front (aka)
Drosophila melanogaster - front (aka)
Arabidopsis thaliana inflorescencias
Arabidopsis thaliana inflorescencias

The laboratory mouse Mus musculus genome was published in 2002.

54986main mouse med
54986main mouse med

Genome sizes vary wildly between species. The H. influenzae genome has 1,830,140 base pairs. Humans have much more, with about 3.2 billion nucleotide pairs in each germ cell. Some organisms, like Amoeba dubia, have massive genomes containing 700 billion nucleotide pairs.

One major challenge in sequencing is dealing with repetitive regions. Traditional methods often produced short "reads" that were difficult to assemble in these areas. This left gaps in the genetic map, known as scaffolds.

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

To solve this, scientists developed long-read sequencing, such as nanopore technology. While nanopore sequencing can be less accurate, its reads are much longer. This allows researchers to span entire repetitive regions. When a genome is sequenced perfectly from end to end, it is called telomere-to-telomere (T2T). A human T2T genome was finally published in 2022.

Whole genome sequencing has massive significance for the future of medicine. It is different from DNA profiling, which only looks at the likelihood of an individual's identity. WGS can pinpoint functional variants that help predict disease susceptibility or how a person might respond to a drug. This is a key part of personalized medicine. Scientists can extract the necessary DNA from many sources, including saliva, hair follicles, bone marrow, or even ancient bones. This technology connects biology, medicine, and computer science to help us understand the very blueprint of life.

656 words

Where will your curiosity go next?

Keep exploring at your chosen reading level.

🖼️ 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
More to explore

🔬 Go deeper

More advanced topics to explore

🪜 Step back

Simpler topics to build understanding

What is Nepedia?

A free, ad-free encyclopedia for children. Every article is written at five reading levels, so the same page works for a five-year-old and a fifteen-year-old — use the level switcher above to see this one change. No account needed to read.