The Human Genome Project: Overview

The Human Genome Project: Overview, The HGP was an international effort to identify the human genome sequence and genes it contains. It was an international research project. Coordinated by the National Health Institutes and the U.S. Department of Energy. Period: 1990 – 2003

The Human Genome Project (HGP) was the international collaborative research program whose objective was to fully map and understand all human genes. All our genes are called our “genome” together.

The Human Genome Project: Overview

What was the goal of the study?

In 1988, a special committee from the United States articulated the main objectives of the Human Genome Project. The National Academy of Sciences and, later, the National Institutes of Health and the Energy Department, have adopted a detailed set of five-year plans.

The two Government agencies signed a Memorandum of Understanding (MoU) to “coordinate research and technical activities in respect of the human genome.” Congress funding the NIH and the DOE to continue exploring this concept.

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The NIH Component, which was called the Office of Human Genome Research, was appointed to lead James Watson. The Office of Human Genome Research developed into the National Center for Human Genome Research in the following year.

The original planning stage was concluded with the publication, in the first five years of the research project, of a joint research plan titled “Intelligence of Our Genetic Heritage: The Human Genome Project, The First Five Years, 1991-1995.”

HGP researchers deciphered the human genome in three key ways:

  • To determine how all the bases of DNA for our genome are ordered, or “sequence;”
  • To create maps that show genes’ position in major parts of all our chromosomes;
  • To produce so-called connective maps that can be used over generations to track herited traits (such as those for genetics disease).

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What was the impact of the Human genome project?

The HGP has shown that approximately 20,500 human genes probably exist. This ultimate HGP product has provided the world with detailed information on how the entire set of human genes is structured, organized and functioning. This information can be regarded as a fundamental set of inheritable “instructions” for a human being’s development and function.

In February 2001, in the journal Nature, the International Human Genome Sequencing Consortium published the initial draft of the human genome with the sequence of the three billion base pairs of the genome as a whole, some 90% completed.

The first draft found that the human genes appeared to be considerably less than previous estimates, ranging from 50,000 to up to 140,000 genes. More than 2,800 researchers who participated in the Consortium shared the authorship. In April 2003, the complete sequence was completed and published.

Francis Collins, then Director of the National Human Genome Research Institute, noted after publishing the majority of the genome in February 2001 that a genome can be considered as a book that has multiple uses. “That is a history book — the story of the journey our species has made through time.”

The tools created via the HGP also inform efforts to characterize the entire genomes of several other biotechnological organisms, such as mice, fruit flies and flatworms. These efforts are mutually supportive because the majority of organisms have many genes with similar or “homologous” functions. Thus, in the model body, for example, roundworm C, identification of sequence or role of a gene. Elegans have the capacity in humans or one of the other model organisms to explain a homologous gene.

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Naturally, information is just as good as useful. Advanced methods are therefore needed to widely distribute HGP information to scientists, doctors and others so as to ensure the quickest application of research findings for the benefit of humanity. Particular beneficiaries of HGP are biomedical technology and research.

However, it was recognized from the outset that the detailed genetic data provided by the HGP had significant implications for individuals and society. Therefore, another important part of the HGP and the continued component of NHGRI is to analyze our newly developed knowledge and to develop policy options for public examination, with an ethical, legal and social implication (ELSI).

Phases of the Human Genome Project

The Human Genome Project used a two-phase approach to dealing with the human genome sequence based on the insight gained from yeast and worm studies (IHGSC, 2001). The first phase, known as the shotgun phase, breaking human chromosomes up into suitable DNA segments and subdivided them in smaller, sequenced overlaps of DNA.

The human genome project was based on the previously established physical map of the human genome, which was used as a platform for generating and analyzing the large volumes of DNA sequence data from the firearms phase.

The second stage, the finishing stage of the project, included filling gaps in the ambiguous areas not achieved in the shotgun phase and resolving DNA sequences. The exponential increase in DNA sequence information deposited in GENBANK by the end of the shotgun phase. In fact, 90 per cent of the human genome sequence came in draft form during the shotgun phase.

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The shotgun phase of the Human Genome Project itself consisted of three steps:

  1. Obtaining a DNA clone to sequence
  2. Sequencing the DNA clone
  3. Assembling sequence data from multiple clones to determine overlap and establish a contiguous sequence

How much money was spend during this project?

U.S. Human Genome Project Funding
($Millions)
FYDOENIH*U.S. Total
198810.717.227.9
198918.528.246.7
199027.259.586.7
199147.487.4134.8
199259.4104.8164.2
199363.0106.1169.1
199463.3127.0190.3
199568.7153.8222.5
199673.9169.3243.2
199777.9188.9266.8
199885.5218.3303.8
199989.9225.7315.6
200088.9271.7360.6
200186.4308.4394.8
200290.1346.7434.3
200364.2372.8437

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Highlights of Human Genome Project?

Human Genome Project

Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by the U.S. Department of Energy (DOE) and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others. Project goals were to

  • identify all the approximately 20,500 genes in human DNA,
  • determine the sequences of the 3 billion chemical base pairs that make up human DNA,
  • store this information in databases,
  • improve tools for data analysis,
  • transfer related technologies to the private sector, and
  • address the ethical, legal, and social issues (ELSI) that may arise from the project.

Though the HGP is finished, analyses of the data will continue for many years.

The Human Genome Project: Overview

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