Genomes by the thousand

Have you ever thought of the process involved In building the Pyramids of ancient Egypt? Or the construct that is Stonehenge, UK? Or even the grand city of Petra in Jordan? What about some of the great cathedrals, churches and museums around the world? They may range in size, shape and function, but they all have something in common. Time and Effort.

Before the advent of modern machinery and building methods, great constructs took many years to complete. Workers numbered in their hundreds and thousands – often cheap slave labour. Work was laborious, cutting and transporting stone and any other natural materials by hand. Any mechanical assistance had to be constructed before use. Build time was often counted in decades.

The result of experience and modern technology, many buildings of a similar magnitude can now be built much faster, more accurately and with less person power.

It is not only buildings where modern advances have made a difference, however. Our understanding of DNA has exploded after considerable time and effort (not to mention cash) of a pioneering first project.

 

Alina_WaveHi, Alina here. Me and 3.2 billion of my friends and cousins make the set of rules and instructions known as the human genome. This genome is responsible for making you.

You humans are an inquisitive lot! You just love to know how we line up in our sequence. In 1988 scientists set out to try and work this out. It was called the Human Genome Project.

We are really tiny and none of them could see us – so they had to get help from a few bacteria. Our sequence was cut up into lots of large pieces using small bacterial scissors. Then some other bacterial accessories (called plasmids) held these pieces in place whilst our sequence was broken into smaller groups and copied.

After that we were marked by fluorescent dyes – so the researchers could actually see something.

We are not cheap or easy

As a  group we were sent through a massive machine.  This machine (which cost as much as a human house!) separated our groups into different sizes and noted the fluorescence colour of the last Dinky Amigo in each group. The dyes identified each Dinky Amigo so researchers could follow our sequence.

Scientists now knew the order for each of individual groups, but the actual groups themselves were out of order. To get the correct sequence, the groups had to be matched with each other and put into the correct place. We made sure this bit was really difficult!

This technique for sequencing DNA was developed in the 1970s by a scientist called Fred Sanger and it was named after him. In fact, he was such a great scientist (he won two Nobel prizes before his death in 2013) that one of the buildings housing this project was also named after him. 100KGenome

Like doing a jigsaw puzzle composed of just clouds and sky, researchers had to work hard to piece our sequence back together again. The genome sequence in this project took them 13 years, with collaboration across 6 countries.

 

Whilst they were sequencing us, scientists were working out ways to do it faster and cheaper.  As they improved, and computers became more powerful, a new type of sequencing was developed.

But getting cheaper…

Now called Next Generation Sequencing, scientists could sequence larger and larger numbers of Dinky Amigos.  Instead of having to sequence us one bit at a time, loads of us could be sequenced in one go.  This made everything a lot faster. And cheaper.

Our sequence – the Human Genome – was published in 2001. There was quite a bit of fiddling around over the next couple of years, but basically it was done. Our line-up wasn’t a secret any more.

… and faster

In 2008 another project was started. The 1000 Genomes project used this new technology to sequence 1000 times as many human genomes as the first project. It took 5 years to complete with collaboration across 4 countries.

In 2012 the 100K genomes project was initiated and completely funded by the UK government.  It has just been finished. 100,000 human genomes took 6 years by researchers working in just one country.

Just like your buildings, you have got better and faster and more accurate. But you don’t know all the answers yet – and we are going to make you work for them!

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