Fully sequenced human genome will help scientists better understand disease

Nineteen years after its conclusion, scientists finish what the HGP started

The Human Genome Project mapped 92% of the human genome sequence upon its completion in 2003, leaving unreachable DNA regions unmapped. PacBio HiFi DNA sequencing allowed its completion 19 years later, with the additional mapping of 200 million DNA letters.

An overview of the Human Genome Project

The Human Genome Project was a groundbreaking global scientific effort to sequence the genome of humans and several organisms used in scientific research. The sequenced genome was created by combining the DNA of 20 people from Buffalo, New York.

Think we decoded the genome in 2000? Nope. It was 2022.

Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA.

See a timeline of landmark discoveries in the field of genetics to gain a better understanding of more than a century of advances.

See a timeline of the Human Genome Project

Despite starting on October 1, 1990, the goal of mapping all the DNA found in a human being was first planned in 1984. The project would reach its goals two years ahead of schedule in 2003.

The Human Genome Project met its goals, but its outcomes were overpromised.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

The Human Genome Project spawned numerous spinoff genetics projects

The Human Genome Project led to the development of techniques later applied to projects in microbial and plant biology, epigenomics, environmental and cancer genomes, and more. In the spirit of the HGP, data from these projects has been made freely available to develop new technologies.

The Human Genome Project was forced to accelerate due to a private competitor

Despite a 15-year target when it began in 1990, the Human Genome Project faced competition from Celera Genomics when it entered the sequencing race in 1998. Celera's aim to complete the human genome in three years pressured the HGP to complete their sequencing several years ahead of schedule.

See the history of DNA sequencing

DNA sequencing evolved from manual methods to automated, high-throughput technologies. The Human Genome Project was possible in the first generation of gene sequencing technology with the "chain termination method," which won developer Fredrick Sanger a Nobel Prize.

The $3B project scientists called 'junk'

In 1990, scientists set out to map all of human DNA. A $3B bet many called "junk." But the Human Genome Project's radical transparency and a race with a private company sped it to completion in just 13 years. Today, that once-contested map underpins nearly every breakthrough in genetics and personalized medicine.

In 2025, researchers in the UK began working on developing artificial DNA

The Synthetic Human Genome Project aims to one day construct human DNA, molecule by molecule, in the hopes of creating disease-resistant cells and synthetic chromosomes for study. However, critics warn it may be misused to create enhanced or modified humans.

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

Genomic sequencing is the process of determining the order of nucleotides that make up an organism's genetic information and can be done in about 24 hours or less for human DNA.

Breaking the genome into random segments accelerated the Human Genome Project

Hierarchical shotgun sequencing is a method for determining an organism's genome by fragmenting DNA before sequencing. By creating fragments with overlapping nucleotide bases, the DNA is reassembled by matching fragment ends.

Watch how Sanger sequencing kickstarted the first generation of DNA sequencing

Sanger sequencing is a foundational DNA sequencing technology developed in 1977. The Nobel Prize-winning discovery uses fluorescent dyes at the end of DNA chains, which are sorted by length through electrophoresis, to determine the order of nucleotide bases.

How do you sequence a genome?

If the genome is made up of microscopic chromosomes, how do scientists actually sequence it? Here's a 5-minute video explaining one of the most common processes.

A student researcher working on the Human Genome Project shares their perspective

In a conversation with Ewan Birney, Director of the European Bio-informatics Institute, he discusses what it was like to be a PhD student working on the Human Genome Project in the months before the draft announcement and its impact on him and the field of genetics.

Genetic engineering will change everything forever

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. As scientists increasingly understand how specific genes cause disease, the possibility of engineering our genes to not only "fix" problems but enhance our natural ability grows.

About 70% of the Human Genome Project's reference genome came from one donor

Volunteers who donated blood to the Human Genome Project consented to using no more than 10% of their DNA, raising questions about the project's legality. Listen to how pressure from a private competitor may have driven officials to ignore ethical standards.

All publicly available DNA sequences are available at GenBank

The National Institutes of Health's database stores comprehensive, annotated DNA sequences as part of the International Nucleotide Sequence Database Collaboration. It encourages unrestricted data access within the scientific community while allowing submitters to retain intellectual property rights over their data.

Gene therapy, a hope of the Human Genome Project, has successfully treated a baby born with a rare urea cycle disorder that causes toxic ammonia level buildup.

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

Timeline of cancer research milestones

While cancer remains incurable, there's been so much progress in its treatment over the last two decades. Nature provides an abridged history of milestones and major triumphs in cancer research and treatment. Start in the year 2000, and see how much has changed in the first quarter of the new millennium

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

All humans share 99.9% of the same DNA

Of the 3 billion base pairs that make up the human genome—the complete set of genetic material for the species—the diversity of humans is the result of variations in about 3 million molecular bases. The closest nonhuman genetic match is the chimp, with 98.8% similar genetics.

CRISPR turns 10 years old

When Dr. Jennifer Doudna and colleagues released a paper in 2012 demonstrating the ability to harness the cell's natural immunity machinery to edit DNA, it received little fanfare. A decade later, the gene editing technology has led to innovations in medicine, evolution, and agriculture—and raised profound ethical questions about altering human DNA.

The promises and perils of using at-home genetic tests for your health

A primer on genetic testing, personalized medicine, and the promise of pharmacogenomics–the use of genetics to predict an individual's response to a drug.

The history of the gene: an interactive timeline

Humans didn’t need modern technology to figure out that kids tend to look like their parents. But what did humans believe about genetics before we knew about DNA or cells in general? Explore this interactive timeline to see how philosophers and scientists throughout the ages tried to explain how traits are passed from generation to generation.

Precision medicine, offering the right treatment at the right time for individuals, integrates genomics, data analytics, and AI to predict risks, personalize treatments, and improve patient outcomes.

Somatic expansion, the lifelong growth of specific repeating DNA sequences, is being studied as a potential treatment target for Huntington's disease and other disorders.

Around 5 million of our 3 billion DNA letters differ between individuals

Genetic testing examines gene variants to help explain disease symptoms. It explores how genetic differences between individuals can be used to understand risks of developing diseases like Huntington's Disease or passing variants linked to disease onto offspring.

Only 2% of human DNA codes for proteins

The entire human genome contains about 20,000 protein-coding genes, with the rest having initially been categorized as "junk" DNA. However, research since 2003 suggests that this "dark genome" regulates how protein-coding genes are expressed in response to environmental factors encountered by cells.

Minorities are largely underrepresented in medical research, which compromises our understanding of how conditions and treatments may affect various populations, but recent efforts, like the African Ancestry Neuroscience Research Initiative and new genome research studies, are seeking to close that gap.

Model organisms like yeast, mice, and flies help scientists decode the human body

Some species are used to quickly study the effects of human diseases and treatments because they are short-lived and have similar systems to those found in humans. Bacteria, like E. coli, have been used as human proxies given their rapid growth and ease of genetic manipulability.

Modern genetic testing stems from a 1950s discovery about the cause of Down syndrome.

DNA carries the unique instructions that shape how each person grows and functions

The human genome contains over six billion DNA letters, organized into 46 chromosomes inherited from both parents. Genes—sections of DNA—serve as templates for making proteins, and variations in these sequences can affect how our bodies work or respond to the environment.

Global life expectancy has more than doubled since the 1850s

The human species experienced a dramatic increase in expected lifespan over the past 150 years. Antibiotics, improved sanitation, and better worldwide food distribution are a few factors contributing to this rapid transformation. Use this interactive resource to explore longevity gains over time and compare these improvements across the globe.

Researchers are exploring neural links between Alzheimer's and autism

Recent DNA sequencing and molecular biology studies suggest that similarities in genes, neural circuitry and patterns of disease warrant further exploration to potentially better understand both conditions and how to treat them. (Some users may encounter a paywall.)

Genes are the basic units of heredity

These segments of DNA—long molecules made of nucleotides that coil into chromosomes—code instructions for making specific proteins, which correspond to different traits. Approximately 98 to 99% of human DNA is non-coding, with functions beyond protein synthesis.

Gut bacteria are evolving and can acquire as many as 100 new genes per year, on average.

Visualization of printing synthetic DNA

Ever wonder how synthetic DNA is made? Discover how GenScript uses innovative technology to synthesize precise, high-quality DNA at a larger scale than ever before.

Up to 8% of the human genome consists of ancient viral DNA

Human endogenous retroviruses are remnants of infections that affected human primate ancestors millions of years ago and were passed on by infiltrating sperm and egg cells. Studies have shown that this DNA may play a role in immune responses and in placental formation.

How personalized gene-editing saved a baby's life

KJ Muldoon had a 50% chance of surviving a genetic mutation until doctors developed a one-of-a-kind gene-editing therapy. In an interview with one of the researchers behind the treatment, learn what it will take to make personalized genetic medicine possible for everyone.

View a collection of historical documents about molecular biology's history

The collection features materials related to those involved in the discovery of DNA and provides historical context for the discoveries of RNA, various viruses, and important bioproteins. The items include photographs, business correspondence, manuscripts, and scientific instruments.

Scientists identify hundreds of genes responsible for OCD

Researchers analyzed the DNA of more than 53,000 people with OCD and identified 30 areas in the genome linked to the disease, containing 249 genes of interest. Of those, several were linked to other brain disorders, paving the way for genetic treatments of various mental illnesses.

The 'Armamentarium' is a set of new gene therapy tools—including viruses that could shuttle therapies into the body—designed to fight brain diseases.

Explore the differences between healthy and cancerous cells using a DNA microarray

In this simulation, you will learn how scientists use microarrays to experiment on thousands of genes at the same time. By determining which genes are on or off, users can identify those that contribute to cancer formation.

The messy story of humanity's genealogical past

For decades, scientists viewed the human fossil record and concluded Neanderthals, an early hominin, came before homo sapiens, or modern humans. The story became more complicated as technology advanced and ancient DNA samples were analyzed. This video breaks down the evidence, concluding the development of humanity was a lot messier than previously believed.

A physician with a rare and deadly disease saved his own life by identifying an existing medication that he repurposed for his condition, and now he's using AI to try to do the same for other patients.