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Human Genome Project (HGP), an international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome.

The Human Genome Project (HGP), which operated from 1990 to 2003, provided researchers with basic information about the sequences of the three billion chemical base pairs (i.e., adenine [A], thymine [T], guanine [G], and cytosine [C]) that make up human genomic DNA (deoxyribonucleic acid). The HGP was further intended to improve the technologies needed to interpret and analyze genomic sequences, to identify all the genes encoded in human DNA, and to address the ethical, legal, and social implications that might arise from defining the entire human genomic sequence.

Timeline of the HGP

Prior to the HGP, the base sequences of numerous human genes had been determined through contributions made by many individual scientists. However, the vast majority of the human genome remained unexplored, and researchers, having recognized the necessity and value of having at hand the basic information of the human genomic sequence, were beginning to search for ways to uncover this information more quickly. Because the HGP required billions of dollars that would inevitably be taken away from traditional biomedical research, many scientists, politicians, and ethicists became involved in vigorous debates over the merits, risks, and relative costs of sequencing the entire human genome in one concerted undertaking. Despite the controversy, the HGP was initiated in 1990 under the leadership of American geneticist Francis Collins, with support from the U.S. Department of Energy and the National Institutes of Health (NIH). The effort was soon joined by scientists from around the world. Moreover, a series of technical advances in the sequencing process itself and in the computer hardware and software used to track and analyze the resulting data enabled rapid progress of the project.

Technological advance, however, was only one of the forces driving the pace of discovery of the HGP. In 1998 a private-sector enterprise, Celera Genomics, headed by American biochemist and former NIH scientist J. Craig Venter, began to compete with and potentially undermine the publicly funded HGP. At the heart of the competition was the prospect of gaining control over potential patents on the genome sequence, which was considered a pharmaceutical treasure trove. Although the legal and financial reasons remain unclear, the rivalry between Celera and the NIH ended when they joined forces, thus speeding completion of the rough draft sequence of the human genome. The completion of the rough draft was announced in June 2000 by Collins and Venter. For the next three years, the rough draft sequence was refined, extended, and further analyzed, and in April 2003, coinciding with the 50th anniversary of the publication that described the double-helical structure of DNA, written by British biophysicist Francis Crick and American geneticist and biophysicist James D. Watson, the HGP was declared complete.

Science behind the HGP

To appreciate the magnitude, challenge, and implications of the HGP, it is important first to consider the foundation of science upon which it was based-the fields of classical, molecular, and human genetics. Classical genetics is considered to have begun in the mid-1800s with the work of Austrian botanist, teacher, and Augustinian prelate Gregor Mendel, who defined the basic laws of genetics in his studies of the garden pea ( Pisum sativum). Mendel succeeded in explaining that, for any given gene, offspring inherit from each parent one form, or allele, of a gene. In addition, the allele that an offspring inherits from a parent for one gene is independent of the allele inherited from that parent for another gene.

Mendel's basic laws of genetics were expanded upon in the early 20th century when molecular geneticists began conducting research using model organisms such as Drosophila melanogaster (also called the vinegar fly or fruit fly) that provided a more comprehensive view of the complexities of genetic transmission. For example, molecular genetics studies demonstrated that two alleles can be codominant (characteristics of both alleles of a gene are expressed) and that not all traits are defined by single genes; in fact, many traits reflect the combined influences of numerous genes. The field of molecular genetics emerged from the realization that DNA and RNA (ribonucleic acid) constitute the genetic material in all living things. In physical terms, a gene is a discrete stretch of nucleotides within a DNA molecule, with each nucleotide containing an A, G, T, or C base unit. It is the specific sequence of these bases that encodes the information contained in the gene and that is ultimately translated into a final product, a molecule of protein or in some cases a molecule of RNA. The protein or RNA product may have a structural role or a regulatory role, or it may serve as an enzyme to promote the formation or metabolism of other molecules, including carbohydrates and lipids. All these molecules work in concert to maintain the processes required for life.

Studies in molecular genetics led to studies in human genetics and the consideration of the ways in which traits in humans are inherited. For example, most traits in humans and other species result from a combination of genetic and environmental influences. In addition, some genes, such as those encoded at neighbouring spots on a single chromosome, tend to be inherited together, rather than independently, whereas other genes, namely those encoded on the mitochondrial genome, are inherited only from the mother, and yet other genes, encoded on the Y chromosome, are passed only from fathers to sons. Using data from the HGP, scientists have estimated that the human genome contains anywhere from 20,000 to 25,000 genes.

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Human Genome Project (HGP) | History, Timeline, & Facts

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Human Genome Project, an international collaboration that determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome. Learn more about the history and science behind the Human Genome Project.

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This endeavor, the Human Genome Project (HGP), has created hopes and expectations about better health care. It has also brought forth serious social issues. To understand the potential positive and negative issues, we must first understand the history and technical aspects of the HGP.

Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its' Human Genome Initiative which emphasized the development of resources and technologies for genome mapping, sequencing, computation, and infrastructure support that would lead to the entire human genome map (3). United States involvement began in October 1990 and was coordinated by the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars, sources of funding also include the National Science Foundation (NSF) and the Howard Hughes Medical Institute (HHMI). Because of the involvement of the NIH, DOE, and NSF who receive U.S. Congressional funding, the HGP is partly funded through federal tax dollars (1). Expected to last 15 years, technological advancements have accelerated the expected date of completion to the year 2003. This completion date would coincide with the 50th anniversary of Watson and Crick's description of the structure of DNA molecule (3).

Human Genome Project Goals

The specific goals of the HGP are to::

Address the possible ethical, legal, and social issues (ELSI) (3).
Technical Aspects of the HGP
The process of determining the human genome involves first mapping, or characterizing the chromosomes. This is called a physical map. The next step is sequencing, or determining the order of DNA bases on a chromosome. These are genetic maps (7).
Mapping Strategies

To sequence the human genome, maps are needed. Physical maps are a series of overlapping pieces of DNA isolated in bacteria (6). Physical maps are used to describe the DNA's chemical characteristics. Mapping involves dividing the chromosomes into fragments that can be propagated and characterized, and then ordering them to correspond to their respective chromosomal locations (7). Genetic markers are invaluable for genome mapping. Markers are any inherited physical or molecular characteristics that are different among individuals of a population. An example of a marker includes restriction fragment length polymorphisms (RFLP). RFLPs reflect sequence differences in DNA sites that can be cleaved by restriction enzymes. To be useful in mapping, markers must be polymorphic, or have more than one form among individuals so that they can be detectable in studies (7). Another marker is Variable Numbers of Tandem Repeats (VNTR), which are small sections of repeating DNA. VNTRs are prevalent in human DNA and can exist in wide variance of numbers. This variability gives individuals unique VNTR regions. This is the application behind solving crime cases with blood samples (1). A genetic map shows the relative locations of these specific markers on chromosomes (7).

Used in RFLP markers are restriction enzymes. These enzymes recognize short sequences of DNA and cut them at specific sites. Since scientists have characterized hundreds of different restriction enzymes, DNA can be cut into many different fragments. These fragments are the DNA pieces used in physical maps (7).

Different types of physical maps exist. Low-resolution physical maps include chromosomal (or Cytogenetic) maps that are based on distinctive banding patterns of stained chromosomes. High-resolution physical maps represent sets of DNA fragments that were cut by restriction enzymes and placed in order as previously described (7).

Sequencing Strategies

To sequence DNA, it must be first be amplified, or increased in quantity. Two types of DNA amplifications are cloning and Polymerase Chain Reactions (PCR). Cloning involves the propagation of DNA fragments in a foreign host. Known as recombinant DNA technology, DNA fragments isolated from restriction enzymes are united with a vector and then reproduced along with the vector's cell DNA. Vectors normally used are viruses, bacteria, and yeast cells. Cloning provides an unlimited amount of DNA for experimental study (7).

With PCRs, DNA can be amplified hundreds of millions of times in a matter of hours, a task that would have taken days with recombinant DNA technology. PCR is valuable because the reaction is highly specific, easily automated, and capable of amplifying very small amounts of DNA. For these reasons, PCR has had major impacts on clinical medicine, genetic disease diagnosis, forensic science, and evolutionary biology (7).

PCR is a process through which a specialized polymerase enzyme synthesizes a complementary strand of DNA to a separate given strand of DNA in a mixture of DNA bases and DNA fragments. The mixture is heated, separating the two strands in a double-stranded DNA molecule. The mixture is then cooled and through the action of the polymerase enzyme, the DNA fragments in the mixture find and bind to their complementary sequences on the now separated strands. The result is two double helix strands from one double helix strand. Repeated heating and cooling cycles in PCR machines amplify the target DNA exponentially. In less than 90 minutes, PCR cycles can amplify DNA by a millionfold (7).

Now that the DNA has been amplified, sequencing can begin. Two basic approaches are Maxam-Gilbert sequencing and Sanger sequencing. Both methods are successful because gel electrophoresis can produce high-resolution separations of DNA molecules. Electrophoresis is the process of using gels with stained DNA and then separating those DNA fragments according to size by the use of electric current through the gel. Even fragments that have only one single different nucleotide can be separated. Almost all of the steps in both of these sequences are now automated (7).

Maxam-Gilbert sequencing, also called chemical degradation method, cleaves DNA at specific bases using chemicals. The result is different length fragments. A refinement to this method known as multiplex sequencing enables scientists to analyze approximately 40 clones on a single DNA sequencing gel.

Sanger sequencing, also called the chain termination or dideoxy method, uses enzymes to synthesize DNA of varying length in four different reactions, stopping the replication at positions occupied by one of the four bases, and then determining the resulting fragment lengths (7).

A major goal of the HGP is to develop automated sequencing technology that can accurately sequence more than 100,000 bases per day. Specific focuses include developing sequencing and detection schemes that are faster, more sensitive, accurate, and economical (7). In 1991, computer technology entered the sequencing process at Oak Ridge National Laboratory where an artificial intelligence program called GRAIL was tested (1).

Applications of the HGP
Scientists estimate that chromosomes in the human population differ at about 0.1%. Understanding these differences could lead to discovery of heritable diseases, as well as diseases and other traits that are common to man (6). Information gained from the HGP has already fueled many positive discoveries in health care. Well-publicized successes include the cloning of genes responsible for Duchenne muscular dystrophy, retinoblastoma, cystic fibrosis, and neurofibromatosis (2). Increasingly detailed genomic maps have also aided researchers seeking genes associated with fragile X syndrome, types of inherited colon cancer, Alzheimer's disease, and familial breast cancer (3).
If other disease-related genes are isolated, scientists can begin to understand the structure and pathology of other disorders such as heart disease, cancer, and diabetes. This knowledge would lead to better medical management of these diseases and pharmaceutical discovery (2).

Current and potential applications of genome research will address national needs in molecular medicine, waste control and environmental cleanup, biotechnology, energy sources, and risk assessment (3).

Molecular Medicine

Through genetic research, medicine will look more into the fundamental causes of diseases rather than concentrating on treating symptoms. Genetic screening will enable rapid and specific diagnostic tests making it possible to treat countless maladies (3). DNA-based tests clarify diagnosis quickly and enable geneticists to detect carriers within families. Genomic information can indicate the future likelihood of some diseases. As an example, if the gene responsible for Huntington's disease is present, it may be certain that symptoms will eventually occur, although predicting the exact time may not be possible. Other diseases where susceptibility may be determined include heart disease, cancer, and diabetes (2).

Medical researchers will be able to create therapeutic products based on new classes of drugs, immunotherapy techniques, and possible augmentation or replacement of defective genes through gene therapy (3).

Waste Control and Environmental Cleanup

In 1994, through advances gained by the HGP, the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production, environmental remediation, toxic waste reduction, and industrial processing. Resulting from that project, six microbes that live under extreme temperature and pressure conditions have been sequenced. By learning the unique protein structure of these microbes, researchers may be able to use the organisms and their enzymes for such practical purposes as waste control and environmental cleanup (3).

Biotechnology

The potential for commercial development presents U.S. industry with a wealth of opportunities. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. The HGP has stimulated significant investment by large corporations and promoted the development of new biotechnology companies hoping to capitalize on the implications of HGP research (3).

Energy Sources

Biotechnology, strengthened by the HGP, will be important in improving the use of fossil-based resources. Increased energy demands require strategies to circumvent the many problems with today's dominant energy technologies. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products. Additionally, there is the possibility of developing entirely new biomass-based energy sources. Having the genomic sequence of the methane-producing microorganism Methanococcus jannaschii, for example, will allow researchers to explore the process of methanogenesis in more detail and could lead to cheaper production of fuel-grade methane (3).

Risk Assessment

Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by environmental exposure to toxic agents. Scientists know that genetic differences cause some people to be more susceptible than others to such agents. More work must be done to determine the genetic basis of such variability, but this knowledge will directly address the DOE's long-term mission to understand the effects of low-level exposures to radiation and other energy-related agents, especially in terms of cancer risk (3). Additional positive spin-offs from this research include a better understanding of biology, increased taxonomic understanding, increased development of pest-resistant and productive crops and livestock, and other commercially useful microorganisms (8).

Ethical, Legal and Social Implications
Early planners of the HGP realized that human genomic mapping and sequencing would have profound implications for individuals, families and our society. Although this information can potentially and dramatically improve human health, it would raise a number of ethical, legal and social issues (ELSI) such as how this information would be interpreted and used, who would have access to it, and how can society prevent harm from improper use of genetic information. To address these issues, the ELSI Program was established as a part of the HGP. ELSI was created so that potential problem areas could be identified and solutions created before genetic information is integrated into modern health care practices (4). This is a unique aspect because the HGP is the first large scientific endeavor to address social issues that may arise from the project (3). The DOE and NIH genome programs each set aside 3-5% of their annual budgets for the study of ELSI (4).
There are four major priorities being addressed by ELSI. The first is the issue of privacy and fairness in the use and interpretation of genetic information. As genetic information is being discovered, the risk of genetic discrimination increases as new disease genes are identified. The issue of privacy and confidentiality, including questions of ownership and control of genetic information becomes critical. Fair use of this information for insurance, employment, criminal justice, education, adoption, and the military is necessary. Also, the impact of genetic information on psychological responses to family relationships and individual stigmatizations becomes an issue (5).

The second priority for ELSI is the clinical integration of new genetic technologies. It has been questioned if health professionals are adequately educated about genetics, genetic technologies and the implications of their use. Important issues include individual and family counseling and testing, informed consent for individual considering genetic testing, and the use of such genetic test for the use of reproductive risk assessment and making reproductive decisions (5).

The issues that surround genetic research are the third priority of ELSI. Such issues include the commercialization of the products from human genetic research. Examples are questions of the ownership of tissue and tissue derived products, patents, copyrights, and accessibility of data and materials (5).

The fourth priority is the education of the general public and health care providers. ELSI funded surveys have revealed that most of the public and health professionals are not knowledgeable about genetics, genetic technologies and the implications of having genetic information. It is essential that the public understands the meaning of genetic information and that the nation's health professionals have the knowledge, skills, and resources to integrate this new knowledge and technologies into diagnosis, prevention, and treatment of diseases (5).

Personal Opinion About the HGP
Although vast issues of social implications have arisen from genetic research, society has too much to gain from the discovery and consequent understanding of the human body and all its components. Americans alone spend enormous sums of money on personal health care including diet pills, hair loss, and virility drugs. It is unforeseable to me that our society will stop its' quest to be healthier and happier.
I believe that genetic research and information should not be allowed in any discriminatory manner. Insurance companies should not be allowed to deny coverage to individual or even have access to that information. The rights of privacy need to be strengthened. Employers and employments agencies should not know an individuals' genetic information. This information should be for the individual at risk of health concerns only and used in treatment or possible prevention.

To be valuable to society, genetic information must be available to all people in need of such information. Class distinctions between those who can afford better health care must not enter the use of genetic research and information.

The positive endeavors such as environmental issues of clean-up and waste management, increased agricultural production and safe food quality should be strengthened.

Genetic research is further extension for the human mind to understand our own beings. We desire information. I do not believe it is possible, if even necessary, to stop the advancement of scientific discovery. As a society and human race, the question that should be concerning and focused on is rather what issues resulting from this discovery need to be addressed. Our curiosity will not stop. Let us use new genetic information to advance the prosperity of the human population.

References
1. The Human Genome Project. Obtained 10/13/99. http://www.accessexcellence.org/AE/AEPC/WWC/1992/human_genome.html.
2. What can we expect from the Human Genome Project. Obtained 10/13/99.http://www.accessexcellence.org/AB/IE/What_Can_We_Expect.html.
3. What is the Human Genome Project? Obtained 10/2/99.http://www.ornl.gov/TechResources/Human_Genome/home.html.
4. Text from "New Goals for the U.S. Human Genome Project: 1998-2003," Science 282: 682-689 (1998). Obtained 10/2/99.http://www.ornl.gov/TechResources/Human_Genome/home.html.
5. National Human Genome Research Institute. Obtained 10/2/99.http://WWW.NHGRI.NIH.GOV/About_NHGRI/Der/Elsi/high_priority.html#Privacy
6. The Human Genome Project. Obtained 10/16/99.http://www.wehi.edu.au/CommServWWW/depts/hgp/Project1500.html.
7. Mapping and Sequencing the Human Genome. Obtained 10/16/99.http://www.bis.med.jhmi.edu/Dan/DOE/prim2.html.
8. Human Genome Project - Discovering the Human Blueprint. Obtained 10/16/99http://www.science.org.au/nova/006/006act03.htm.
Student Essay List

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Applications and Issues of the Human Genome Project

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This endeavor, the Human Genome Project (HGP), has created hopes and expectations about better health care. It has also brought forth serious social issues. To understand the potential positive and negative issues, we must first understand the history and technical aspects of the HGP. Worldwide discussion about a HGP began in 1985.

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http://whoami.sciencemuseum.org.uk/whoami/findoutmore/yourgenes/whatwasthehumangenomeproject/whatdidthehumangenomeprojectfind

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It has been over a decade since the Human Genome Project was finished, so what has been happening since and how is the completed human genome sequence being used?

Effectively, the completed sequence of the human genome provides an instruction manual for making and maintaining the human body. The task for scientists now is to read the contents of this instruction manual and work out how all the parts fit together and what it all means. The completion of the human genome is just the starting point for a century or more of new discoveries. A number of genome sequencing projects have been set up since the Human Genome Project to start to understand genome biology. You can read about some of them below.

International HapMap Project

In October 2002, the International HapMap Project was launched. Building on the freely available sequence produced by the Human Genome Project, it aimed to speed up the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease by creating a 'catalogue' of common genetic variations in humans. The catalogue describes specific variations in our DNA, where they occur and how they are distributed among populations around the world.

The DNA sequence of any two people is 99.5 per cent identical.

The DNA sequence of any two people is 99.5 per cent identical. Any variations however, can have a significant effect on an individual's risk of developing a certain disease. During this project, the scientists looked for sites where the DNA sequence differed by a single base (A, C, G or T). These sites are known as single nucleotide polymorphisms (SNPs). Sets of SNPs on the same chromosome tend to be inherited in blocks. The pattern of these blocks in our chromosomes is called a haplotype. A HapMap is a map of where these haplotype blocks are located on the chromosome. This is useful because, by comparing the HapMap of different individuals, scientists can then identify key areas of genetic variation.

Having a catalogue like this has made it much easier to establish connections between particular genes and disease.

The $100 million public-private effort involved the work of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States. It studied a range of populations carefully selected for their diverse population histories.

The first draft of the HapMap was completed ahead of schedule in February 2005, with the final results published in 2010. Having a catalogue like this available to scientists has simplified the search for different gene variations as much as 20-fold, making it much easier to establish connections between particular genes and disease. Between 2005 and 2012, scientists identified a considerable number of associations between particular regions of the genome and disease.

ENCODE project

In September 2003, the National Human Genome Research Institute (NHGRI) in the USA, launched a research project named ENCODE (the Encyclopedia Of DNA Elements). This project aimed to identify and characterise all the functional parts of the genome, and so begin to reveal how the genome actually works. Like the Human Genome Project, it was committed to being a community resource, sharing its data as soon as possible.

The project started with a pilot study. This was intended to test and compare the computational and experimental methods needed to develop an encyclopaedia of all the functional elements in the human genome. The pilot phase brought together investigators from a wide range of backgrounds to help develop the best approaches to the project, evaluating their various merits.

The lead researchers describe the ENCODE resource as an operating manual for the human genome.

In September 2012, after years of effort by hundreds of researchers, a whole catalogue of genetic data was published. The lead researchers described the ENCODE resource as an operating manual for the human genome. As well as confirming the number of genes that carry the codes to make proteins (around 21,000), they identified another 9,000 genes that have important effects in our cells. They also announced that 80 per cent of the human genome sequence is close to regions that control biological function; this meant that most of what was once considered "junk DNA", the non-coding DNA in the human genome, is actually functional.

The sheer scale of the data collected by the participants of the ENCODE project was overwhelming. Over 1,800 genome-wide experiments were completed, using 147 different cell types and a carefully selected set of new technologies.

Based at the Wellcome Trust Sanger Institute, the GENCODE Consortium was a sub-project and vital part of ENCODE. Their work is helping to describe, in a highly accurate way, the features and functions of our 20,687 individual genes and their various regulatory elements.

1000 Genomes Project

The 1000 Genomes Project, which launched in 2008, was the first project to aim to sequence the genomes of a large number of people (at least 1,000), to provide a comprehensive resource on human genetic variation.

The genomes of over 2,500 anonymous people from 26 populations will be sequenced using next-generation sequencing technologies.

Any two humans are around 99.5 per cent the same at the genetic level. The tiny percentage of genetic material that varies among people can help to explain individual differences in susceptibility to disease, response to drugs or reaction to environmental factors. Although 0.5 per cent may not sound like a lot, 0.5 per cent of 3 billion bases is 15,000,000 - so that's still a lot of differences!

The 1000 Genomes Project aimed to produce an extremely detailed catalogue of human DNA variation to help scientists studying people with specific diseases. The genomes of over 2,500 anonymous people from 26 populations around the world were sequenced using next-generation sequencing technologies. The final papers from the project were published in Nature in 2015. The results of the study are freely and publicly accessible to researchers worldwide.

UK10K

In 2010, the Wellcome Trust launched a study of 10,000 human genomes in the UK, which aimed to analyse the DNA of one in every 6,000 individuals in the UK. Scientists expected the UK10K project to uncover many rare genetic variants that are important in human disease, giving a much deeper picture of genetics to help other studies, both in the UK and around the world.

The Wellcome Trust provided a £10.5 million Strategic Award to the Sanger Institute to fund the project. It is running in collaboration with clinical researchers from around the UK, using samples and data collected over many years.

UK10K aimed to analyse the genomes of 4,000 healthy people, studied since they were born in the early 1990s, and compare them with the exomes of 6,000 people currently living with a disease of suspected genetic cause, such as severe obesity, schizophrenia or congenital heart disease. By doing this, UK10K aimed to identify the regions of the genes involved in these diseases. Initial results published in 2015 identified genetic variants with links to health and disease, including cholesterol levels and bone health.

The researchers believed that the results from this huge study would have an immediate impact on genetics, contributing to an on-going transformation of our understanding of human genetic variation. Scientists hope that this will lead to advances in our understanding of disease biology, eventually leading to improved treatments.

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How is the completed human genome sequence being used?

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It has been over a decade since the Human Genome Project was finished, so what has been happening since and how is the completed human genome sequence being used? Effectively, the completed sequence of the human genome provides an instruction manual for making and maintaining the human body.

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National Human Genome Research Institute (NHGRI)

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The Human Genome Project (HGP) is an international research effort to determine the DNA sequence of the entire human genome. Contributors to the HGP include the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), which initiated its funding of the HGP in 1988; the U.S.

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The Human Genome Project - Genetic inheritance - part two - Edexcel - GCSE Biology (Single Science) Revision - Edexcel - BBC Bitesize

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Learn about genetic inheritance through blood groups and chromosomes; inherited sex-linked disorders; and human usage of selective breeding and cloning.

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National Human Genome Research Institute (NHGRI)

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international human genome sequencing consortium

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international human genome project consortium

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Human Genome Project Completion: Frequently Asked Questions

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A list of frequently asked questions about the completion of the Human Genome Project.

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Space may be the final frontier, but human biology is the original unknown, challenging us to discover who we are and where we came from. DNA, the building block of life, contains the genetic code that informs so much of who we are. This code is written with four letters, each representing a different base. The four bases are adenine (A), which pairs with thymine (T), and cytosine (C), which pairs with guanine (G).

Scientists have long known that these four letters provide the recipes for proteins, which carry out numerous bodily functions. But there are still questions to be answered, including how the 3.2 billion base pairs contained in the human genome are ordered. (The human genome is a person's entire bundle of DNA divided unevenly among 23 pairs of chromosomes.) To that end, the Human Genome Project ( HGP) was launched in 1990. Some of the project's ambitious goals included:

Sequencing the entire human genome

Identifying human genes

Charting variations across human genomes

Sequencing genomes of the mouse and four other "model organisms"

[source: Genome.gov]

Run by the National Institutes of Health and the U.S. Department of Energy, the project was completed ahead of schedule in 2003. A "final" batch of results was published in 2006, but data produced by the HGP are continually examined, analyzed and occasionally revised. Theoretically, with the main goals achieved, the project is finished. Let's look at some of what we learned.

Only a few years before the completion of the HGP, popular predictions stated that humans had up to 100,000 genes. But recent HGP estimates lowered that number to a more modest range of 20,000 to 25,000 [source: Human Genome Project Information]. In addition, the HGP has helped to narrow the range of possible genes and to isolate certain candidates as contributing to specific diseases. Scientists have also reassessed previous assumptions, such as the idea that genes are self-contained, discrete pieces of DNA with defined roles. That's not always the case. We now know that some multitasking genes make more than one protein; in fact, the average gene may make three proteins [source: Genome.gov]. Also, genes appear to grab genetic code from other DNA segments.

Before we look closely at heredity and genes, let's stop to consider what scientists have learned about animal and other genomes. Some of these projects, such as mapping the mouse genome, were included in the original Human Genome Project and can tell us about our evolution and DNA.

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What have we learned from the Human Genome Project?

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­Space may be the final frontier, but human biology is the original unknown, challenging us to discover who we are and where we came from. DNA, the building block of life, contains the genetic code that informs so much of who we are. This code is written with four letters, each representing a different base.

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National Human Genome Research Institute (NHGRI)

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The Human Genome Project (HGP) was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability, for the first time, to read nature's complete genetic blueprint for building a human being.

In this section, you will find access to a wealth of information on the history of the HGP, its progress, cast of characters and future.

A Quarter Century after the Human Genome Project's Launch: Lessons Beyond the Base Pairs
October 1, 2015 marked the 25 th anniversary of the launch of the Human Genome Project. To commemorate this anniversary the NHGRI History of Genomics Program is hosting a seminar series entitled "A Quarter Century after the Human Genome Project's Launch: Lessons Beyond the Base Pairs."

Educational Resources

General Information

Research

Model Organisms

Integral to the HGP were similar efforts to understand the genomes of various organisms commonly used in biomedical research, such as mice, fruit flies and roundworms. Such organisms are called "model organisms," because they serve as research models for how the human organism behaves.

To view the PDFs on this page you will need Adobe Reader.
Last Updated: October 1, 2015

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introduction to the human genome project

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All About The Human Genome Project (HGP)

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The Human Genome Project (HGP) was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens.

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What was the Human Genome Project and why has it been important?

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The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy. Additional contributors included universities across the United States and international partners in the United Kingdom, France, Germany, Japan, and China.

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It has been over a decade since the Human Genome Project was finished, so what has been happening since and how is the completed human genome sequence being used?

Effectively, the completed sequence of the human genome provides an instruction manual for making and maintaining the human body. The task for scientists now is to read the contents of this instruction manual and work out how all the parts fit together and what it all means. The completion of the human genome is just the starting point for a century or more of new discoveries. A number of genome sequencing projects have been set up since the Human Genome Project to start to understand genome biology. You can read about some of them below.

International HapMap Project

In October 2002, the International HapMap Project was launched. Building on the freely available sequence produced by the Human Genome Project, it aimed to speed up the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease by creating a 'catalogue' of common genetic variations in humans. The catalogue describes specific variations in our DNA, where they occur and how they are distributed among populations around the world.

The DNA sequence of any two people is 99.5 per cent identical.

The DNA sequence of any two people is 99.5 per cent identical. Any variations however, can have a significant effect on an individual's risk of developing a certain disease. During this project, the scientists looked for sites where the DNA sequence differed by a single base (A, C, G or T). These sites are known as single nucleotide polymorphisms (SNPs). Sets of SNPs on the same chromosome tend to be inherited in blocks. The pattern of these blocks in our chromosomes is called a haplotype. A HapMap is a map of where these haplotype blocks are located on the chromosome. This is useful because, by comparing the HapMap of different individuals, scientists can then identify key areas of genetic variation.

Having a catalogue like this has made it much easier to establish connections between particular genes and disease.

The $100 million public-private effort involved the work of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States. It studied a range of populations carefully selected for their diverse population histories.

The first draft of the HapMap was completed ahead of schedule in February 2005, with the final results published in 2010. Having a catalogue like this available to scientists has simplified the search for different gene variations as much as 20-fold, making it much easier to establish connections between particular genes and disease. Between 2005 and 2012, scientists identified a considerable number of associations between particular regions of the genome and disease.

ENCODE project

In September 2003, the National Human Genome Research Institute (NHGRI) in the USA, launched a research project named ENCODE (the Encyclopedia Of DNA Elements). This project aimed to identify and characterise all the functional parts of the genome, and so begin to reveal how the genome actually works. Like the Human Genome Project, it was committed to being a community resource, sharing its data as soon as possible.

The project started with a pilot study. This was intended to test and compare the computational and experimental methods needed to develop an encyclopaedia of all the functional elements in the human genome. The pilot phase brought together investigators from a wide range of backgrounds to help develop the best approaches to the project, evaluating their various merits.

The lead researchers describe the ENCODE resource as an operating manual for the human genome.

In September 2012, after years of effort by hundreds of researchers, a whole catalogue of genetic data was published. The lead researchers described the ENCODE resource as an operating manual for the human genome. As well as confirming the number of genes that carry the codes to make proteins (around 21,000), they identified another 9,000 genes that have important effects in our cells. They also announced that 80 per cent of the human genome sequence is close to regions that control biological function; this meant that most of what was once considered "junk DNA", the non-coding DNA in the human genome, is actually functional.

The sheer scale of the data collected by the participants of the ENCODE project was overwhelming. Over 1,800 genome-wide experiments were completed, using 147 different cell types and a carefully selected set of new technologies.

Based at the Wellcome Trust Sanger Institute, the GENCODE Consortium was a sub-project and vital part of ENCODE. Their work is helping to describe, in a highly accurate way, the features and functions of our 20,687 individual genes and their various regulatory elements.

1000 Genomes Project

The 1000 Genomes Project, which launched in 2008, was the first project to aim to sequence the genomes of a large number of people (at least 1,000), to provide a comprehensive resource on human genetic variation.

The genomes of over 2,500 anonymous people from 26 populations will be sequenced using next-generation sequencing technologies.

Any two humans are around 99.5 per cent the same at the genetic level. The tiny percentage of genetic material that varies among people can help to explain individual differences in susceptibility to disease, response to drugs or reaction to environmental factors. Although 0.5 per cent may not sound like a lot, 0.5 per cent of 3 billion bases is 15,000,000 - so that's still a lot of differences!

The 1000 Genomes Project aimed to produce an extremely detailed catalogue of human DNA variation to help scientists studying people with specific diseases. The genomes of over 2,500 anonymous people from 26 populations around the world were sequenced using next-generation sequencing technologies. The final papers from the project were published in Nature in 2015. The results of the study are freely and publicly accessible to researchers worldwide.

UK10K

In 2010, the Wellcome Trust launched a study of 10,000 human genomes in the UK, which aimed to analyse the DNA of one in every 6,000 individuals in the UK. Scientists expected the UK10K project to uncover many rare genetic variants that are important in human disease, giving a much deeper picture of genetics to help other studies, both in the UK and around the world.

The Wellcome Trust provided a £10.5 million Strategic Award to the Sanger Institute to fund the project. It is running in collaboration with clinical researchers from around the UK, using samples and data collected over many years.

UK10K aimed to analyse the genomes of 4,000 healthy people, studied since they were born in the early 1990s, and compare them with the exomes of 6,000 people currently living with a disease of suspected genetic cause, such as severe obesity, schizophrenia or congenital heart disease. By doing this, UK10K aimed to identify the regions of the genes involved in these diseases. Initial results published in 2015 identified genetic variants with links to health and disease, including cholesterol levels and bone health.

The researchers believed that the results from this huge study would have an immediate impact on genetics, contributing to an on-going transformation of our understanding of human genetic variation. Scientists hope that this will lead to advances in our understanding of disease biology, eventually leading to improved treatments.

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How is the completed human genome sequence being used?

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It has been over a decade since the Human Genome Project was finished, so what has been happening since and how is the completed human genome sequence being used? Effectively, the completed sequence of the human genome provides an instruction manual for making and maintaining the human body.

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What were the goals of the Human Genome Project?

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In addition to sequencing DNA, the Human Genome Project sought to develop new tools to obtain and analyze the data and to make this information widely available. Also, because advances in genetics have consequences for individuals and society, the Human Genome Project committed to exploring the consequences of genomic research through its Ethical, Legal, and Social Implications (ELSI) program.