Genomic Methods and technology

Code Crackers

In this activity, learners discover how genes encode proteins, using a codon wheel and protein profiles.

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Tech in the Lab

Use a micro:bit to explore how creative coding and sensors can help scientists solve tricky problems in the lab!

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Function Finders

Discover how DNA sequences code for proteins with different roles and functions.

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Function Finders: BLAST!

Decode DNA sequences and discover the proteins they code for using online scientific databases.

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What is DNA sequencing?

DNA sequencing is the process of working out the exact order of the four chemical building blocks – called bases – in a section of DNA.

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A conceptual illustration of genome editing using clustered regularly interspaced short palindromic repeats (CRISPR). In order to edit a genetic sequence, a Cas9 protein (purple) attaches to the DNA of a cell using a guide RNA (orange) that matches a target DNA sequence, and separates the double helix. A protospacer adjacent motif (PAM) sequence on the cell's DNA (green) indicates where the Cas9 protein locks down and cuts the target DNA. Once the sequence has been cut, the DNA can be disabled or altered.

What is genome editing?

Genome editing is a way of making specific changes to a cell or organism’s DNA – such as adding, removing or altering the DNA sequence. This can be used to change the cell or organism’s characteristics.

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The Human Genome Project

The Human Genome Project was a large, international project that generated the first sequence of the human genome.

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C elegans: the early worm gets the sequence

Since the emergence of the nematode worm as a model organism in the 1960s, it’s helped to unlock important information and unravel mysteries of biology.

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3D rendering showing a single strand of DNA with floating DNA bases around it. A protein structure is moving along the DNA strand adding these DNA bases making it double stranded.

DNA sequencing

This 3D animation shows the basic steps in the method of DNA sequencing that was used during the Human Genome Project.

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Picture of Data servers, they are lit up green and there is 6 large servers in the image.

DNA to Data

Explore how scientists get sequence data from DNA samples.

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Image of the Drosophila melanogaster (fruit fly)

Fruit flies in the laboratory

The fruit fly, or Drosophila melanogaster, has the longest history in genetics and research out of all the model organisms.

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Genome-wide association studies

Genome-wide association studies compare the genomes of people with and without certain conditions to look for genetic variation that might be responsible.

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Genomics Lite: Genetic alchemy

Our guest speaker for this session was Dr. Nneka Anyanwu, Head of Gene Editing at the Wellcome Sanger Institute, exploring how gene editing is transforming the genome.

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Genomics Lite: How is AI used in bioscience?

Genomics Lite is a series of public webinars, in this session we explored what AI is and how it is being used on the Wellcome Genome Campus, a large bioscience research organisation.

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Giants in genomics: Allan Bradley

Allan Bradley was director of the Wellcome Trust Sanger Institute from 2000 to 2010. His appointment as director coincided with the completion of the draft human genome sequence by the Human Genome Project.

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Giants in genomics: Eric Lander

Eric Lander is the founding director of the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard. He was one of the leaders of the Human Genome Project and he has developed important tools to investigate disease.

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Giants in genomics: Francis Collins

Francis Collins led the Human Genome Project from 1993. He was also responsible for discovering the genes mutated in cystic fibrosis and Huntington’s disease.

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Picture of Francis Crick looking into the camera.

Giants in genomics: Francis Crick

Francis Crick was the co-discoverer of the double helix structure of DNA. For this fundamental finding Francis, James Watson and Maurice Wilkins were awarded the Nobel Prize for Physiology or Medicine in 1962.

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Giants in genomics: Fred Sanger

The Sanger Institute takes its name from the double Nobel Prize winner and ‘father of genomics’, Frederick Sanger.

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Giants in genomics: James Watson

James Watson was the co-discoverer of the double helix structure of DNA. For this fundamental finding Francis, James Watson and Maurice Wilkins were awarded the Nobel Prize for Physiology or Medicine in 1962.

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Photo of Professor Dame Janet Thornton smiling

Giants in genomics: Janet Thornton

Professor Dame Janet Thornton was director of the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI), which shares the Wellcome Genome Campus with the Wellcome Trust Sanger Institute, from 2001 to 2015.

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Giants in genomics: Jennifer Doudna

Jennifer Anne Doudna is a biochemist who won the Nobel Prize for her work in developing CRISPR-Cas9 genome editing technology.

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Giants in genomics: John Sulston

Sir John Sulston was the founding director of the Sanger Centre (now the Sanger Institute) from 1992 until 2000, when the ‘working draft’ of the human genome sequence was completed.

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Giants in genomics: Maurice Wilkins

Maurice Wilkins shared the Nobel Prize with Francis Crick and James Watson in 1962 for their joint discovery of the structure of DNA. Naturally reticent, Wilkins didn’t initially stand forward to give his own account of the DNA story so few knew of his direct involvement in the project.

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Giants in genomics: Mike Stratton

Sir Mike Stratton served as the director of the Wellcome Trust Sanger Institute from 2010 to 2023. He also initiated and co-leads the Cancer Genome Project.

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Giants in genomics: Robert Waterston

Robert Waterston is an American biologist well known for his work on sequencing the genome of the nematode worm alongside John Sulston. He is also recognised for his part in sequencing the human, mouse and chimpanzee genomes.

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Black and white photograph of Rosalind Elsie Franklin

Giants in genomics: Rosalind Franklin

Rosalind Elsie Franklin was a British biophysicist and X-ray crystallographer whose fundamental research was critical to Watson and Crick’s discovery of the structure of DNA.

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Scientist wearing gloves looking through a telescope

How are stem cells used in research and medicine?

Stem cells can provide valuable information about early human development and why different diseases occur and could lead to new therapies to replace lost or damaged cells.

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How did patenting cause conflicts within the Human Genome Project?

Despite the collaborative nature of the Human Genome Project, it was not without its conflicts and disagreements, including some scientists trying to patent sections of the DNA sequence for their own financial gain.

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How did the Human Genome Project come about?

The Human Genome Project was so big that at the time no one thought it would be possible. But with the support of key scientists and considerable funding, it officially began in 1990.

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How did the Human Genome Project make science more accessible?

The Human Genome Project is widely regarded as a model for open access science – making the results freely available to everyone.

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How do we use CRISPR gene editing to study diseases?

CRISPR-Cas9 is a genome editing tool used to alter specific sequences of DNA in a cell. It has many uses both in research and in helping us understand disease.

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Image showing a piece of paper with a DNA sequence written on it, an electrophoresis photo and a restriction map.

How do you map a genome?

There are two main ways to map a genome: genetic mapping and physical mapping. They’re used to identify and record the location of genes and the distances between genes on a chromosome.

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Two C57Black6 mice and their genetically identical offspring

How inbreeding mice led to lifesaving treatments

Humans have been breeding animals for millennia to bring out desirable characteristics. In research, this has led to the mouse model – a valuable tool for studying genetics and disease.

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Leaps forward: lessons learned from the clawed frog

Without the African clawed frog, our understanding of early development would not have progressed to where it is today.

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Model organisms: the clawed frog

Much of our current knowledge about the early development of vertebrates comes from studies using the African clawed frog (Xenopus laevis) and Western clawed frog (Xenopus tropicalis).

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development of the fruit fly in pictures

Model organisms: the fruit fly

The fruit fly (Drosophila melanogaster) has been used in research for more than 100 years, revealing important information about genetics and development.

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image of two mice, one is smaller and one is obese.

Model organisms: the mouse

The mouse shares many similarities with humans in terms of anatomy, physiology and genetics, making it a useful model organism.

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Model organisms: the nematode worm

While the fruit fly has a long history as a model organism, the nematode worm (Caenorhabditis elegans) has only been used as a model organism since the early 1960s.

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Model organisms: the zebrafish

Since the 1960s, the zebrafish (Danio rerio) has become increasingly important to scientific research. It has many characteristics that make it a valuable model for studying human genetics and disease.

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Budding yeast cell under the microscope.

Model organisms: yeast

Yeast is commonly used to investigate genetics, the biological processes that occur in cells and to work out the connections between genes and the proteins they code for.

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Picture of a computer screen showing sequencing.

Post-sequencing: putting the sequence back together

How do you put a genome back together after sequencing?

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Post-sequencing: quality control

What happens to DNA sequence when it comes off a sequencing machine? Step 1 is quality control.

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Someone discussing sequencing on a screen projected on the wall

Post-sequencing: sequence annotation

How do you identify the genes in a genome?

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Picture of someone looking at a computer looking at a post-sequence

Post-sequencing: sequence comparisons

How do you find out the significance of a genome after sequencing?

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Image of someone on a laptop looking at sequencing.

Post-sequencing: storing and sharing sequenced genomes

How are sequenced genomes stored and shared?

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3D rendering of DNA sequencing process. Circle in left of image showing lots of single strands of DNA on a flow cell. In right of image is a DNA strand with a protein molecule moving along the strand.

Sequencing at speed

This 3D animation gives a simple overview of next generation DNA sequencing, known as massively parallel sequencing.

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Alec Jeffreys showing the technique of DNA fingerprinting

The dawn of DNA profiling: the ‘eureka’ moment that revolutionised crime solving

In 1984, Alec Jeffreys developed the technique of DNA fingerprinting in his laboratory at the University of Leicester. These techniques have revolutionised the way that the police solve crimes.

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The discovery of DNA: the first building blocks

The discovery of DNA marked a milestone in our understanding of the natural world. In the mid nineteenth century scientists made the initial discoveries uncovering an important chemical in the nucleus of cells.

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Picture of Oswald Avery, Colin MacLeod and Maclyn McCarty greeting each other

The discovery of DNA: the molecule of life

The discovery of DNA marked a milestone in our understanding of the natural world. In the mid 1900s scientists found important evidence on how DNA links to inheritance.

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The discovery of DNA: unravelling the double helix

The discovery of DNA marked a milestone in our understanding of the natural world. Understanding DNAs spiral structure was an important step.

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The evolution of genome editing tools

Genome-editing tools have evolved since the 1980s, enabling scientists to make increasingly precise edits to a genome.

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The pilot project for the Human Genome Project: sequencing C. elegans

The nematode worm, Caenorhabditis elegans, was the first animal to have its genome fully sequenced. This milestone provided the proof of principle many people needed that the Human Genome Project would be possible.

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Timeline: Organisms that have had their genomes sequenced

Since DNA sequencing was developed in the 1970s, scientists have used it to learn more about different organisms and their genomes.

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Timeline: how has the Human Genome Project been used?

What’s happened since the Human Genome Project finished in 2003?

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Timeline: the Human Genome Project

The Human Genome Project, which began officially in 1990, was the largest international collaboration ever undertaken in biology and involved thousands of scientists.

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Timeline: the past, present and future of sequencing technologies

Since the 1970s, scientists’ ability to sequence a genome has evolved from a laborious, expensive process to one that is quick, accurate and able to reveal important information about biology and medicine.

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Tiny fish, big splash: the story of the zebrafish

The tropical zebrafish (Danio rerio) is a relatively new addition to the suite of model organisms used by researchers to better understand biology.

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Types of genome edits

Genome editing is used to change the characteristics of a cell or organism, by making specific changes to its DNA.

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Short-read sequencing using Illumina NovaSeq 6000s in the Bridget Ogilvie Building (BOB). Featuring Barbora Pardubska and Tristram Bellerby.

Types of genome sequencing

We often refer to genome sequencing as part of the Human Genome Project, which read the entire human genome – but it can be used for whole genomes, right down to very specific areas of DNA.

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black and white photo of Barbara McClintock conducting a science experiment

Unsung heroes in science: Barbara McClintock

Barbara McClintock was a pioneering geneticist who discovered that genes can ‘jump’. This discovery led to her receiving the Nobel Prize in Physiology or Medicine in 1983.

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black and white photo of Henrietta Lacks

Unsung heroes in science: Henrietta Lacks

Although not a scientist, Henrietta Lacks has been instrumental in biological research as her cancer cells became the first successful line of human cells to be grown in the lab. Her story has also prompted many ethical and moral questions about how scientific research is conducted.

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black and white photo of Margaret Hamilton stacking books

Unsung heroes in science: Margaret Hamilton

Margaret Hamilton was a computer scientist who spearheaded software engineering whilst working at NASA during the Apollo missions.

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black and white photo of Marie Maynard Daly conducting an experiment in a lab setting

Unsung heroes in science: Marie Maynard Daly

Marie Maynard Daly, the first Black woman in the US to receive a PhD in chemistry, worked on nucleic acids, cholesterol links to heart disease and protein synthesis.

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Using artificial intelligence for genomic research

Scientists use artificial intelligence (AI) to improve our understanding of many aspects of biology. Applications range from insights into biological processes, better knowledge of complex diseases or health issues, and tools for engineering new drugs. But what exactly is AI? On this page we break down the key concepts in AI and explain how these technologies help scientists make new discoveries.

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What DNA is profiling used for?

Looking at unique patterns in different people’s DNA – known as DNA profiling – can help to solve crime and link biological relatives.

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What are BAC libraries?

Bacterial Artificial Chromosome (BAC) libraries are used alongside clone-by-clone sequencing – a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads.

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What are model organisms?

Model organisms are non-human species that are used in research to help us understand specific areas of biology.

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3d,Illustration,Of,The,Crispr-cas9,Genome,Editing,System

What is CRISPR-Cas9?

CRISPR-Cas9 is a genome editing tool that is creating a buzz in the science world. It is faster, cheaper and more accurate than previous techniques of editing DNA and has a wide range of potential applications.

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DNA profiling with someone holding a pencil above it

What is DNA profiling?

DNA profiling is used to identify an individual from a sample of DNA by looking at unique patterns in the DNA sequence.

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Picture of a scientist conducting a science experiment.

What is Genomic Surveillance?

Genomic surveillance involves sequencing the genetic material of pathogens and identifying changes linked to the origins or characteristics of a disease.

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Picture of a scientist using his hands to insert flow cell.

What is Oxford Nanopore Technologies (ONT) sequencing?

Oxford Nanopore Technologies developed third generation sequencers that are portable, able to sequence DNA in remote locations and produce ultra-long reads.

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What is PCR (polymerase chain reaction)?

PCR is a technique used in the lab to make millions of copies of a particular section of DNA.

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image of pacbio in DNA-Sequencing-Long-Read

What is PacBio SMRT sequencing?

A type of third generation sequencing, Single-Molecule Sequencing in Real Time (SMRT) made it possible to sequence the DNA from single cells for the first time.

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What is RNA sequencing?

RNA sequencing is a technique used to identify the sequence of the bases that make up a molecule of RNA.

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picture of a man looking in the reflection with sequencing on the wall

What is Sanger Sequencing?

The Sanger sequencing method enabled scientists to read the genetic code for the first time.

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What is bioinformatics and how do we use it?

Bioinformatics is the science of both storing lots of complex biological data, and of analysing it to find new insights, which we use in many different ways.

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scientist looking at lots of data on multiple computers

What is capillary sequencing?

An evolution of Sanger sequencing, capillary sequencing made it possible to sequence the human genome.

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What is clone-by-clone sequencing?

Clone-by-clone sequencing is a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads.

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Agarose gel with UV illumination - Ethidium bromide stained DNA glows orange

What is gel electrophoresis?

Electrophoresis is a technique commonly used in the lab to separate charged molecules, like DNA, according to size.

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Depiction of a map where gene locations have been identified.

What is genome mapping?

Genome mapping is used to identify and record the location of genes and the distances between genes on a chromosome.

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What is next generation sequencing?

Next generation sequencing dramatically cut the time and cost needed to sequence a genome.

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image of lots of letters displaying shotgun sequencing.

What is shotgun sequencing?

Shotgun sequencing is a way of assembling a long fragment of DNA (such as a gene, a chromosome or even a whole genome) from shorter sequencing reads. It’s sometimes called whole genome shotgun sequencing.

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Short-read sequencing using Illumina NovaSeq 6000s in the Bridget Ogilvie Building.

What is the Illumina method of DNA sequencing?

Illumina sequencing launched in 2006, allowing scientists to sequence 1 million bases of DNA in one single run.

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scientists in a lab using scientific equipment

What is third generation sequencing?

A fundamentally different way to sequence DNA, third generation sequencing brought a cheaper, faster and more sophisticated approach to genomics.

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What was sequencing like before the Human Genome Project?

The Sanger sequencing method, developed in 1977, enabled scientists to read the genetic code for the first time. Over the next two decades, the technology evolved until it was fit for use by the Human Genome Project.

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Picture of 454 Life Sciences first next-generation DNA sequencer machine

What was the 454 method of DNA sequencing?

In 2005, 454 Life Sciences launched the first next-generation DNA sequencer – a big leap forward in DNA sequencing technology that made it possible to sequence many samples simultaneously.

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What was the Human Genome Project for?

The Human Genome Project was the largest international collaboration ever undertaken in biology and involved thousands of scientists around the world – including those at the Wellcome Sanger Institute in Cambridge, UK.

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US President Bill Clinton on the podium smiling happily

What was the ‘draft sequence’ of the Human Genome Project?

The announcement of the first draft of the human genome on 26 June 2000 was big news – and not without its surprises.

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Front cover of the Nature magazine with the Human Genome Project on the front cover.

When was the Human Genome Project completed?

In 2003, two years ahead of schedule, scientists announced that the human genome had been sequenced with an accuracy of 99.99%. It was described as ‘the end of the beginning’.

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Picture of a large group of people that were involved in the Human Genome Project

Who was involved in the Human Genome Project?

Worldwide collaboration would be essential to sequence the human genome – and the Human Genome Project brought together scientists from across the world.

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Why was there a race to sequence the human genome?

The entry of a private company – Celera Genomics – into the human genome sequencing arena in 1998 galvanised the public effort, leading to a race to sequence the human genome.

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