Human Genome Project

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Human Genome Project
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{{short description|Research program for sequencing the human genome}}File:Vitruvian man.jpg|thumbnail|Logo of the HGP – the Vitruvian Man by Leonardo da VinciLeonardo da VinciThe Human Genome Project (HGP) was an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.VIDEO, Robert Krulwich, 2003,weblink Cracking the Code of Life, Television Show, Public Broadcasting Service, PBS, It remains the world's largest collaborative biological project.WEB,weblink Economic Impact of the Human Genome Project – Battelle, 1 August 2013, After the idea was picked up in 1984 by the US government when the planning started, the project formally launched in 1990 and was declared complete on April 14, 2003.WEB,weblink Human Genome Project Completion: Frequently Asked Questions, National Human Genome Research Institute (NHGRI), Funding came from the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside government by the Celera Corporation, or Celera Genomics, which was formally launched in 1998. Most of the government-sponsored sequencing was performed in twenty universities and research centers in the United States, the United Kingdom, Japan, France, Germany and China.WEB,weblink Human Genome Project Completion: Frequently Asked Questions,, The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). The "genome" of any given individual is unique; mapping the "human genome" involved sequencing a small number of individuals and then assembling these together to get a complete sequence for each chromosome. Therefore, the finished human genome is a mosaic, not representing any one individual.

Human Genome Project


(File:Dna-split.png|right)The Human Genome Project was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years.WEB, Human Genome Project: Sequencing the Human Genome {{!, Learn Science at Scitable|url =weblink|website =|access-date = 2016-01-25}} In May 1985, Robert Sinsheimer organized a workshop to discuss sequencing the human genome,JOURNAL, Sinsheimer, Robert, The Santa Cruz Workshop, May 1985, Genomics, 1989, 5, 4, 954–956, 10.1016/0888-7543(89)90142-0, but for a number of reasons the NIH was uninterested in pursuing the proposal. The following March, the Santa Fe Workshop was organized by Charles DeLisi and David Smith of the Department of Energy's Office of Health and Environmental Research (OHER).JOURNAL, DeLisi, Charles, Conferences That Changed the World, Nature, October 2008, 876–877, 10.1038/455876a, 2008Natur.455..876D, 455, 7215, 18923499, At the same time Renato Dulbecco proposed whole genome sequencing in an essay in Science.JOURNAL, Dulbecco, Renato, Turning Point in Cancer Research, Sequencing the Human Genome, Science, 1986, 231, 1055–1056, 10.1126/science.3945817, 3945817, 4742, 1986Sci...231.1055D, James Watson followed two months later with a workshop held at the Cold Spring Harbor Laboratory.The fact that the Santa Fe workshop was motivated and supported by a Federal Agency opened a path, albeit a difficult and tortuous one,Gene Wars, Op.Cit. p. 102. for converting the idea into a public policy in the United States. In a memo to the Assistant Secretary for Energy Research (Alvin Trivelpiece), Charles DeLisi, who was then Director of the OHER, outlined a broad plan for the project.WEB,weblink Search,, This started a long and complex chain of events which led to approved reprogramming of funds that enabled the OHER to launch the Project in 1986, and to recommend the first line item for the HGP, which was in President Reagan's 1988 budget submission, and ultimately approved by the Congress. Of particular importance in Congressional approval was the advocacy of Senator Peter Domenici, whom DeLisi had befriended.WEB,weblink President Clinton Awards the Presidential Citizens Medals,, 2014-08-06,weblink 2012-08-31, yes, Domenici chaired the Senate Committee on Energy and Natural Resources, as well as the Budget Committee, both of which were key in the DOE budget process. Congress added a comparable amount to the NIH budget, thereby beginning official funding by both agencies.Alvin Trivelpiece sought and obtained the approval of DeLisi's proposal by Deputy Secretary William Flynn Martin. This charweblink was used in the spring of 1986 by Trivelpiece, then Director of the Office of Energy Research in the Department of Energy, to brief Martin and Under Secretary Joseph Salgado regarding his intention to reprogram $4 million to initiate the project with the approval of Secretary Herrington. This reprogramming was followed by a line item budget of $16 million in the Reagan Administration’s 1987 budget submission to Congress.JOURNAL, DeLisi, Charles, Meetings that changed the world: Santa Fe 1986: Human genome baby-steps, Nature, 2008, 455, 7215, 876–877, 2008Natur.455..876D, 10.1038/455876a, 18923499, It subsequently passed both Houses. The Project was planned for 15 years.JOURNAL, DeLisi, Charles, The Human Genome Project, American Scientist, 1988, 76, 5, 488, 1988AmSci..76..488D, Candidate technologies were already being considered for the proposed undertaking at least as early as 1979; Ronald W. Davis and colleagues of Stanford University submitted a proposal to NIH that year and it was turned down as being too ambitious.NEWS,weblink He pioneered technology that fueled the Human Genome Project. Now his greatest challenge is curing his own son, Prior, Ryan, CNN, May 13, 2019, May 14, 2019, JOURNAL, DeLisi, Charles, 2001,weblink Genomes: 15 Years Later A Perspective by Charles Deli, HEP Pioneer, Human Genome News, 11, 3–4, 2005-02-03, yes,weblink" title="">weblink September 4, 2004, In 1990, the two major funding agencies, DOE and NIH, developed a memorandum of understanding in order to coordinate plans and set the clock for the initiation of the Project to 1990.NEWS,weblink About the Human Genome Project: What is the Human Genome Project, The Human Genome Management Information System (HGMIS), 2011-07-18, 2011-09-02,weblink" title="">weblink 2011-09-02, yes, At that time, David Galas was Director of the renamed “Office of Biological and Environmental Research” in the U.S. Department of Energy's Office of Science and James Watson headed the NIH Genome Program. In 1993, Aristides Patrinos succeeded Galas and Francis Collins succeeded James Watson, assuming the role of overall Project Head as Director of the U.S. National Institutes of Health (NIH) National Center for Human Genome Research (which would later become the National Human Genome Research Institute). A working draft of the genome was announced in 2000 and the papers describing it were published in February 2001. A more complete draft was published in 2003, and genome "finishing" work continued for more than a decade.The $3-billion project was formally founded in 1990 by the US Department of Energy and the National Institutes of Health, and was expected to take 15 years.WEB, Human Genome Information Archive,weblink About the Human Genome Project, U.S. Department of Energy & Human Genome Project program, 1 August 2013,weblink" title="">weblink 2 September 2011, yes, dmy-all, In addition to the United States, the international consortium comprised geneticists in the United Kingdom, France, Australia, China and myriad other spontaneous relationships.WEB, Collins F, Galas D,weblink A New Five-Year Plan for the United States: Human Genome Program, National Human Genome Research Institute, 1993-10-01, 1 August 2013, Adjusted for inflation the project cost roughly $5 billion.JOURNAL, Life on Earth to have its DNA analysed in the name of conservation, Nature, 6 November 2018, 563, 7730, 155–156, 10.1038/d41586-018-07323-y, JOURNAL, Lewin, Harris A., etal, Earth BioGenome Project: Sequencing life for the future of life, Proceedings of the National Academy of Sciences of the United States of America, PNAS, 2018, 115, 17, 4325–4333, 10.1073/pnas.1720115115, Due to widespread international cooperation and advances in the field of genomics (especially in sequence analysis), as well as major advances in computing technology, a 'rough draft' of the genome was finished in 2000 (announced jointly by U.S. President Bill Clinton and the British Prime Minister Tony Blair on June 26, 2000).WEB,weblink White House Press Release, 2006-07-22, This first available rough draft assembly of the genome was completed by the Genome Bioinformatics Group at the University of California, Santa Cruz, primarily led by then graduate student Jim Kent. Ongoing sequencing led to the announcement of the essentially complete genome on April 14, 2003, two years earlier than planned.NEWS,weblink Human genome finally complete, 2006-07-22, 2003-04-14, BBC News, Ivan, Noble, NEWS,weblink Human Genome, Then and Now, Kolata, Gina, 15 April 2013, The New York Times, 24 April 2014, In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in Nature.NEWS,weblink Guardian Unlimited |UK Latest | Human Genome Project finalised, 2006-07-22, The Guardian, London, {{dead link|date=August 2014}}The institutions, companies and laboratories in Human Genome Program are listed below, according to NIH.{| class="wikitable"! No.! Nation! Name! Affiliation|1
USA}}|The Whitehead Institute/MIT Center for Genome Research|Massachusetts Institute of Technology
GBR}}|The Wellcome Trust Sanger Institute|Wellcome Trust
USA}}|Washington University School of Medicine Genome Sequencing Center|Washington University in St. Louis
USA}}|United States DOE Joint Genome Institute|United States Department of Energy
USA}}|Baylor College of Medicine Human Genome Sequencing Center|Baylor College of Medicine
JPN}}|RIKEN Genomic Sciences Center|Riken
FRA}}|Genoscope and CNRS UMR-8030|French Alternative Energies and Atomic Energy Commission
USA}}|GTC Sequencing CenterGenome Therapeutics Corporation, whose sequencing division is acquired by Applied Biosystems>ABI
GER}}|Department of Genome Analysis|Fritz Lipmann Institute, name changed from Institute of Molecular Biotechnology
CHN}}|Beijing Genomics Institute/Human Genome Center|Chinese Academy of Sciences
USA}}|Multimegabase Sequencing Center|Institute for Systems Biology
USA}}|Stanford Genome Technology Center|Stanford University
USA}}|Stanford Human Genome Center and Department of Genetics|Stanford University School of Medicine
USA}}|University of Washington Genome Center|University of Washington
JPN}}|Department of Molecular Biology|Keio University School of Medicine
USA}}|University of Texas Southwestern Medical Center at Dallas|University of Texas
USA}}|University of Oklahoma's Advanced Center for Genome Technology|Dept. of Chemistry and Biochemistry, University of Oklahoma
GER}}|Max Planck Institute for Molecular Genetics|Max Planck Society
USA}}|Lita Annenberg Hazen Genome Center|Cold Spring Harbor Laboratory
GER}}|GBF/German Research Centre for Biotechnology|Reorganized and renamed to Helmholtz Center for Infection Research

State of completion

The project was not able to sequence all the DNA found in human cells. It sequenced only euchromatic regions of the genome, which make up 92% of the human genome. The other regions, called heterochromatic, are found in centromeres and telomeres, and were not sequenced under the project.WEB, The Human Genome Project FAQ,weblink Genoscope, Centre National de Séquençage, 12 February 2015, 2013-10-19, The Human Genome Project (HGP) was declared complete in April 2003. An initial rough draft of the human genome was available in June 2000 and by February 2001 a working draft had been completed and published followed by the final sequencing mapping of the human genome on April 14, 2003. Although this was reported to cover 99% of the euchromatic human genome with 99.99% accuracy, a major quality assessment of the human genome sequence was published on May 27, 2004 indicating over 92% of sampling exceeded 99.99% accuracy which was within the intended goal.JOURNAL, Schmutz, 2004, Quality assessment of the human genome sequence, Nature, 429, 365–368, 10.1038/nature02390, 15164052, 2004Natur.429..365S, 6990, Jeremy, Wheeler, Jeremy, Grimwood, Jane, Dickson, Mark, Yang, Joan, Caoile, Chenier, Bajorek, Eva, Black, Stacey, Chan, Yee Man, Denys, Mirian, Escobar, Julio, Flowers, Dave, Fotopulos, Dea, Garcia, Carmen, Gomez, Maria, Gonzales, Eidelyn, Haydu, Lauren, Lopez, Frederick, Ramirez, Lucia, Retterer, James, Rodriguez, Alex, Rogers, Stephanie, Salazar, Angelica, Tsai, Ming, Myers, Richard M., Further analyses and papers on the HGP continue to occur.WEB,weblink Landmark Human Genome Project Papers,, In March 2009, the Genome Reference Consortium (GRC) released a more accurate version of the human genome, but that still left more than 300 gaps.JOURNAL, Dolgin, Elie, 2009-12-17, Human genomics: The genome finishers, Nature, 462, 7275, 843–845, 10.1038/462843a, 1476-4687, 20016572, In October 2018, the GRC still indicated 514 gaps, most of which are annotated as "stalled" or "under investigation/review", so it seems they will not be resolved any time soon.WEB,weblink Human Genome Issues, Genome Reference Consortium, 2018-10-15,

Applications and proposed benefits

The sequencing of the human genome holds benefits for many fields, from molecular medicine to human evolution. The Human Genome Project, through its sequencing of the DNA, can help us understand diseases including: genotyping of specific viruses to direct appropriate treatment; identification of mutations linked to different forms of cancer; the design of medication and more accurate prediction of their effects; advancement in forensic applied sciences; biofuels and other energy applications; agriculture, animal husbandry, bioprocessing; risk assessment; bioarcheology, anthropology and evolution. Another proposed benefit is the commercial development of genomics research related to DNA based products, a multibillion-dollar industry.The sequence of the DNA is stored in databases available to anyone on the Internet. The U.S. National Center for Biotechnology Information (and sister organizations in Europe and Japan) house the gene sequence in a database known as GenBank, along with sequences of known and hypothetical genes and proteins. Other organizations, such as the UCSC Genome Browser at the University of California, Santa Cruz,WEB,weblink An Overview of the Human Genome Project, and EnsemblWEB,weblink Ensembl Genome Browser,, present additional data and annotation and powerful tools for visualizing and searching it. Computer programs have been developed to analyze the data, because the data itself is difficult to interpret without such programs. Generally speaking, advances in genome sequencing technology have followed Moore's Law, a concept from computer science which states that integrated circuits can increase in complexity at an exponential rate.JOURNAL, Mardis, E., The impact of next-generation sequencing technology on genetics, Trends in Genetics, 2008, 24, 3, 133–41, 10.1016/j.tig.2007.12.007, 18262675, 2680276, This means that the speeds at which whole genomes can be sequenced can increase at a similar rate, as was seen during the development of the above-mentioned Human Genome Project.

Techniques and analysis

{{refimprove section|date=April 2017}}The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is in the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughout demands of genome sequencing projects. Beginning in 2008, a new technology known as RNA-seq was introduced that allowed scientists to directly sequence the messenger RNA in cells. This replaced previous methods of annotation, which relied on inherent properties of the DNA sequence, with direct measurement, which was much more accurate. Today, annotation of the human genome and other genomes relies primarily on deep sequencing of the transcripts in every human tissue using RNA-seq. These experiments have revealed that over 90% of genes contain at least one and usually several alternative splice variants, in which the exons are combined in different ways to produce 2 or more gene products from the same locus.{{citation needed|date=January 2015}}The genome published by the HGP does not represent the sequence of every individual's genome. It is the combined mosaic of a small number of anonymous donors, all of European origin. The HGP genome is a scaffold for future work in identifying differences among individuals. Subsequent projects sequenced the genomes of multiple distinct ethnic groups, though as of today there is still only one "reference genome."{{citation needed|date=January 2015}}


Key findings of the draft (2001) and complete (2004) genome sequences include:
  1. There are approximately 22,300JOURNAL, Between a chicken and a grape: estimating the number of human genes, Mihaela Pertea & Steven Salzberg, 2010, Genome Biology, 11, 5, 206, 10.1186/gb-2010-11-5-206, 20441615, 2898077, protein-coding genes in human beings, the same range as in other mammals.
  2. The human genome has significantly more segmental duplications (nearly identical, repeated sections of DNA) than had been previously suspected.JOURNAL, Venter, JC, etal, The sequence of the human genome, Science, 2001, 291, 5507, 1304–1351, 10.1126/science.1058040, 11181995, 2001Sci...291.1304V, JOURNAL, International Human Genome Sequencing Consortium (IHGSC), 2004, Finishing the euchromatic sequence of the human genome, Nature, 431, 931–945, 10.1038/nature03001, 15496913, 7011, 2004Natur.431..931H, WEB,weblink Spencer, Geoff, International Human Genome Sequencing Consortium Describes Finished Human Genome Sequence, 20 December 2004, NIH Nes Release, National Institutes of Health,
  3. At the time when the draft sequence was published fewer than 7% of protein families appeared to be vertebrate specific.BOOK, 108,weblink ...brought to light about 1200 protein families. Only 94 protein families, or 7%, appear to be vertebrate specific, Design and information in biology: From molecules to systems, 9781853128530, Bryant, J. A, 2007,


missing image!
- Wellcome genome bookcase.png -
The first printout of the human genome to be presented as a series of books, displayed at the Wellcome Collection, London
The Human Genome Project was started in 1990 with the goal of sequencing and identifying all three billion chemical units in the human genetic instruction set, finding the genetic roots of disease and then developing treatments. It is considered a megaproject because the human genome has approximately 3.3 billion base pairs. With the sequence in hand, the next step was to identify the genetic variants that increase the risk for common diseases like cancer and diabetes.WEB, Wellcome Sanger Institute,weblink The Human Genome Project: a new reality, Wellcome Trust Sanger Institute, Genome Research Limited, 1 August 2013, yes,weblink" title="">weblink 2013-08-01, It was far too expensive at that time to think of sequencing patients’ whole genomes. So the National Institutes of Health embraced the idea for a "shortcut", which was to look just at sites on the genome where many people have a variant DNA unit. The theory behind the shortcut was that, since the major diseases are common, so too would be the genetic variants that caused them. Natural selection keeps the human genome free of variants that damage health before children are grown, the theory held, but fails against variants that strike later in life, allowing them to become quite common (In 2002 the National Institutes of Health started a $138 million project called the HapMap to catalog the common variants in European, East Asian and African genomes).JOURNAL, Naidoo N, Pawitan Y, Soong R, Cooper DN, Ku CS, Human genetics and genomics a decade after the release of the draft sequence of the human genome, Hum Genomics, 5, 6, 577–622, 2011, 22155605, 3525251, 10.1186/1479-7364-5-6-577, The genome was broken into smaller pieces; approximately 150,000 base pairs in length. These pieces were then ligated into a type of vector known as "bacterial artificial chromosomes", or BACs, which are derived from bacterial chromosomes which have been genetically engineered. The vectors containing the genes can be inserted into bacteria where they are copied by the bacterial DNA replication machinery. Each of these pieces was then sequenced separately as a small "shotgun" project and then assembled. The larger, 150,000 base pairs go together to create chromosomes. This is known as the "hierarchical shotgun" approach, because the genome is first broken into relatively large chunks, which are then mapped to chromosomes before being selected for sequencing.WEB,weblink Celera: A Unique Approach to Genome Sequencing,, 2006, Biocomputing, 1 August 2013, WEB, Davidson College,weblink Sequencing Whole Genomes: Hierarchical Shotgun Sequencing v. Shotgun Sequencing,, 2002, Department of Biology, Davidson College, 1 August 2013, Funding came from the US government through the National Institutes of Health in the United States, and a UK charity organization, the Wellcome Trust, as well as numerous other groups from around the world. The funding supported a number of large sequencing centers including those at Whitehead Institute, the Wellcome Sanger Institute (then called The Sanger Centre) based at the Wellcome Genome Campus, Washington University in St. Louis, and Baylor College of Medicine.WEB, Human Genome Project Information Archive,weblink U.S. & International HGP Research Sites, 2013, U.S. Department of Energy & Human Genome Project, 1 August 2013, The United Nations Educational, Scientific and Cultural Organization (UNESCO) served as an important channel for the involvement of developing countries in the Human Genome Project.JOURNAL, Vizzini, Casimiro, The Human Variome Project: Global Coordination in Data Sharing, Science & Diplomacy, March 19, 2015, 4, 1,weblink

Public versus private approaches

In 1998, a similar, privately funded quest was launched by the American researcher Craig Venter, and his firm Celera Genomics. Venter was a scientist at the NIH during the early 1990s when the project was initiated. The $300,000,000 Celera effort was intended to proceed at a faster pace and at a fraction of the cost of the roughly $3 billion publicly funded project. The Celera approach was able to proceed at a much more rapid rate, and at a lower cost than the public project because it relied upon data made available by the publicly funded project.JOURNAL, The sequence of the human genome, Science, 2001-02-16, 0036-8075, 11181995, 1304–1351, 291, 5507, 10.1126/science.1058040, J. C., Venter, M. D., Adams, E. W., Myers, P. W., Li, R. J., Mural, G. G., Sutton, H. O., Smith, M., Yandell, C. A., Evans, 2001Sci...291.1304V, Celera used a technique called whole genome shotgun sequencing, employing pairwise end sequencing,JOURNAL, 1995, Pairwise end sequencing: a unified approach to genomic mapping and sequencing, Genomics, 26, 345–353, 10.1016/0888-7543(95)80219-C, 7601461, Roach JC, Boysen C, Wang K, Hood L, 2, which had been used to sequence bacterial genomes of up to six million base pairs in length, but not for anything nearly as large as the three billion base pair human genome.Celera initially announced that it would seek patent protection on "only 200–300" genes, but later amended this to seeking "intellectual property protection" on "fully-characterized important structures" amounting to 100–300 targets. The firm eventually filed preliminary ("place-holder") patent applications on 6,500 whole or partial genes.Celera also promised to publish their findings in accordance with the terms of the 1996 "Bermuda Statement", by releasing new data annually (the HGP released its new data daily), although, unlike the publicly funded project, they would not permit free redistribution or scientific use of the data. The publicly funded competitors were compelled to release the first draft of the human genome before Celera for this reason. On July 7, 2000, the UCSC Genome Bioinformatics Group released a first working draft on the web. The scientific community downloaded about 500 GB of information from the UCSC genome server in the first 24 hours of free and unrestricted access.WEB, Center for Biomolecular Science & Engineering,weblink The Human Genome Project Race, Center for Biomolecular Science and Engineering, 1 August 2013, In March 2000, President Clinton announced that the genome sequence could not be patented, and should be made freely available to all researchers. The statement sent Celera's stock plummeting and dragged down the biotechnology-heavy Nasdaq. The biotechnology sector lost about $50 billion in market capitalization in two days.Although the working draft was announced in June 2000, it was not until February 2001 that Celera and the HGP scientists published details of their drafts. Special issues of Nature (which published the publicly funded project's scientific paper)JOURNAL, International Human Genome Sequencing Consortium, Initial sequencing and analysis of the human genome, Nature, 409, 860–921, 2001,weblink 10.1038/35057062, 11237011, 6822, 2001Natur.409..860L, and Science (which published Celera's paperJOURNAL, Venter, JC, The sequence of the human genome, Science, 291, 1304–1351, 2001,weblink 10.1126/science.1058040, 11181995, 5507, 1, Adams, MD, Myers, EW, Li, PW, Mural, RJ, Sutton, GG, Smith, HO, Yandell, M, Evans, CA, Holt, Robert A., Gocayne, Jeannine D., Amanatides, Peter, Ballew, Richard M., Huson, Daniel H., Wortman, Jennifer Russo, Zhang, Qing, Kodira, Chinnappa D., Zheng, Xiangqun H., Chen, Lin, Skupski, Marian, Subramanian, Gangadharan, Thomas, Paul D., Zhang, Jinghui, Gabor Miklos, George L., Nelson, Catherine, Broder, Samuel, Clark, Andrew G., Nadeau, Joe, McKusick, Victor A., Zinder, Norton, 2001Sci...291.1304V, ) described the methods used to produce the draft sequence and offered analysis of the sequence. These drafts covered about 83% of the genome (90% of the euchromatic regions with 150,000 gaps and the order and orientation of many segments not yet established). In February 2001, at the time of the joint publications, press releases announced that the project had been completed by both groups. Improved drafts were announced in 2003 and 2005, filling in to approximately 92% of the sequence currently.

Genome donors

In the IHGSC international public-sector HGP, researchers collected blood (female) or sperm (male) samples from a large number of donors. Only a few of many collected samples were processed as DNA resources. Thus the donor identities were protected so neither donors nor scientists could know whose DNA was sequenced. DNA clones from many different libraries were used in the overall project, with most of those libraries being created by Pieter J. de Jong's. Much of the sequence (>70%) of the reference genome produced by the public HGP came from a single anonymous male donor from Buffalo, New York (code name RP11).JOURNAL, Osoegawa, Kazutoyo, 2001, A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome, Genome Research, 11, 483–96, 10.1101/gr.169601, 11230172, Mammoser, AG, Wu, C, Frengen, E, Zeng, C, Catanese, JJ, De Jong, PJ, 3, 311044, JOURNAL, Tuzun, E, 2005, Fine-scale structural variation of the human genome, Nature Genetics, 37, 727–737, 10.1038/ng1562, 15895083, 7, 1, Sharp, Andrew J, Bailey, Jeffrey A, Kaul, Rajinder, Morrison, V Anne, Pertz, Lisa M, Haugen, Eric, Hayden, Hillary, Albertson, Donna, HGP scientists used white blood cells from the blood of two male and two female donors (randomly selected from 20 of each) – each donor yielding a separate DNA library. One of these libraries (RP11) was used considerably more than others, due to quality considerations. One minor technical issue is that male samples contain just over half as much DNA from the sex chromosomes (one X chromosome and one Y chromosome) compared to female samples (which contain two X chromosomes). The other 22 chromosomes (the autosomes) are the same for both sexes.Although the main sequencing phase of the HGP has been completed, studies of DNA variation continued in the International HapMap Project, whose goal was to identify patterns of single-nucleotide polymorphism (SNP) groups (called haplotypes, or “haps”). The DNA samples for the HapMap came from a total of 270 individuals: Yoruba people in Ibadan, Nigeria; Japanese people in Tokyo; Han Chinese in Beijing; and the French Centre d’Etude du Polymorphisme Humain (CEPH) resource, which consisted of residents of the United States having ancestry from Western and Northern Europe.In the Celera Genomics private-sector project, DNA from five different individuals were used for sequencing. The lead scientist of Celera Genomics at that time, Craig Venter, later acknowledged (in a public letter to the journal Science) that his DNA was one of 21 samples in the pool, five of which were selected for use.JOURNAL, Science, 2002, 297, 1237, Not wicked, perhaps, but tacky, Kennedy D, 12193755, 10.1126/science.297.5585.1237, 5585, JOURNAL, Science, 2003, 299, 1183–4, A Part of the Human Genome Sequence, Venter D, 12595674, 10.1126/science.299.5610.1183, 5610, In 2007, a team led by Jonathan Rothberg published James Watson's entire genome, unveiling the six-billion-nucleotide genome of a single individual for the first time.JOURNAL, James Watson's genome sequenced at high speed, Nature News, 2008-04-16, 788, 452, 7189, 10.1038/452788b, 18431822, Meredith, Wadman, 2008Natur.452R....W,


The work on interpretation and analysis of genome data is still in its initial stages. It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies, such as Myriad Genetics, started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, hemostasis disorders, cystic fibrosis, liver diseases and many others. Also, the etiologies for cancers, Alzheimer's disease and other areas of clinical interest are considered likely to benefit from genome information and possibly may lead in the long term to significant advances in their management.JOURNAL, Gonzaga-Jauregui C, Lupski JR, Gibbs RA, Human genome sequencing in health and disease, Annu Rev Med, 63, 1, 35–61, 2012, 22248320, 10.1146/annurev-med-051010-162644, 3656720, There are also many tangible benefits for biologists. For example, a researcher investigating a certain form of cancer may have narrowed down their search to a particular gene. By visiting the human genome database on the World Wide Web, this researcher can examine what other scientists have written about this gene, including (potentially) the three-dimensional structure of its product, its function(s), its evolutionary relationships to other human genes, or to genes in mice or yeast or fruit flies, possible detrimental mutations, interactions with other genes, body tissues in which this gene is activated, and diseases associated with this gene or other datatypes. Further, deeper understanding of the disease processes at the level of molecular biology may determine new therapeutic procedures. Given the established importance of DNA in molecular biology and its central role in determining the fundamental operation of cellular processes, it is likely that expanded knowledge in this area will facilitate medical advances in numerous areas of clinical interest that may not have been possible without them.JOURNAL, Snyder M, Du J, Gerstein M, Personal genome sequencing: current approaches and challenges, Genes Dev, 24, 5, 423–431, 2012, 20194435, 10.1101/gad.1864110, 2827837, The analysis of similarities between DNA sequences from different organisms is also opening new avenues in the study of evolution. In many cases, evolutionary questions can now be framed in terms of molecular biology; indeed, many major evolutionary milestones (the emergence of the ribosome and organelles, the development of embryos with body plans, the vertebrate immune system) can be related to the molecular level. Many questions about the similarities and differences between humans and our closest relatives (the primates, and indeed the other mammals) are expected to be illuminated by the data in this project.JOURNAL, Lander ES, Initial impact of the sequencing of the human genome, Nature, 470, 7333, 187–197, 2011, 21307931, 10.1038/nature09792, 2011Natur.470..187L, The project inspired and paved the way for genomic work in other fields, such as agriculture. For example, by studying the genetic composition of Tritium aestivum, the world's most commonly used bread wheat, great insight has been gained into the ways that domestication has impacted the evolution of the plant.JOURNAL, Peng, J, Sun, E, Nevo, D, Domestication Evolution, Genetics And Genomics In Wheat, Molecular Breeding, 2011, 28, 3, 281–301, 10.1007/s11032-011-9608-4, Which loci are most susceptible to manipulation, and how does this play out in evolutionary terms? Genetic sequencing has allowed these questions to be addressed for the first time, as specific loci can be compared in wild and domesticated strains of the plant. This will allow for advances in genetic modification in the future which could yield healthier and disease-resistant wheat crops, etc.

Ethical, legal and social issues

At the onset of the Human Genome Project several ethical, legal, and social concerns were raised in regards to how increased knowledge of the human genome could be used to discriminate against people. One of the main concerns of most individuals was the fear that both employers and health insurance companies would refuse to hire individuals or refuse to provide insurance to people because of a health concern indicated by someone's genes.BOOK, Greely, Henry, The Code of Codes: Scientific and Social Issues in the Human Genome Project, 1992, Harvard University Press, Cambridge, Massachusetts, 978-0-674-13646-5, 264–65, In 1996 the United States passed the Health Insurance Portability and Accountability Act (HIPAA) which protects against the unauthorized and non-consensual release of individually identifiable health information to any entity not actively engaged in the provision of healthcare services to a patient.WEB, US Department of Health and Human Services,weblink Understanding Health Information Privacy, 2015-08-26, Other nations passed no such protections.Along with identifying all of the approximately 20,000–25,000 genes in the human genome, the Human Genome Project also sought to address the ethical, legal, and social issues that were created by the onset of the project. For that the Ethical, Legal, and Social Implications (ELSI) program was founded in 1990. Five percent of the annual budget was allocated to address the ELSI arising from the project.WEB, Genetics Home Reference,weblink What were some of the ethical, legal, and social implications addressed by the Human Genome Project?,, 2013, 1 August 2013, This budget started at approximately $1.57 million in the year 1990, but increased to approximately $18 million in the year 2014.WEB,weblink ELSI Research Program Fact Sheet - National Human Genome Research Institute (NHGRI),, 2016-09-27, Whilst the project may offer significant benefits to medicine and scientific research, some authors have emphasized the need to address the potential social consequences of mapping the human genome. "Molecularising disease and their possible cure will have a profound impact on what patients expect from medical help and the new generation of doctors' perception of illness."BOOK, Rheinberger, H.J., Living and Working with the New Medical Technologies, 2000, Cambridge University Press, Cambridge, 20,

See also

{{col div}}
  • {{annotated link|1000 Genomes Project}}
  • {{annotated link|100,000 Genomes Project}}
  • {{annotated link|Chimpanzee genome project}}
  • {{annotated link|ENCODE}}
  • {{annotated link|Physiome}}
  • {{annotated link|HUGO Gene Nomenclature Committee}}
  • {{annotated link|Human Brain Project}}
  • {{annotated link|Human Connectome Project}}
  • {{annotated link|Cytomics|Human Cytome Project}}
  • {{annotated link|Human Microbiome Project}}
  • {{annotated link|Human proteome project}}
  • {{annotated link|Human Variome Project}}
  • {{annotated link|List of biological databases}}
  • {{annotated link|Neanderthal genome project}}
  • {{annotated link|Wellcome Sanger Institute}}
  • {{annotated link|Genographic Project}}



Further reading

  • BOOK, McElheny, Victor K., Drawing the Map of Life: Inside the Human Genome Project, 2010, Basic Books, 978-0-465-03260-0, 361 pages. Examines the intellectual origins, history, and motivations of the project to map the human genome; draws on interviews with key figures.
  • BOOK, Collins, F., 2006, The Language of God: A Scientist Presents Evidence for Belief, Free Press (publisher), Free Press, 978-0-7432-8639-8, 65978711, The Language of God: A Scientist Presents Evidence for Belief,
  • BOOK, Venter, J. Craig, A Life Decoded: My Genome: My Life, October 18, 2007, Viking Adult, New York, New York, 978-0-670-06358-1, 165048736,
  • BOOK, Robert, Cook-Deegan, The Gene Wars: Science, Politics, and the Human Genome, 1994, W W Norton, New York,

External links

{{wikinews|Mexico presents first population-wide genome map for a Latin country}}

Works by archive
  • {{Gutenberg author | id=Human+Genome+Project | name=Human Genome Project}}
    • Project Gutenberg hosts e-texts for Human Genome Project, titled Human Genome Project, Chromosome Number ( denotes 01-22, X and Y). This information is raw sequence, released in November 2002; access to entry pages with download links is available throughweblink for Chromosome 1 sequentially toweblink for the Y Chromosome. Note that this sequence might not be considered definitive due to ongoing revisions and refinements. In addition to the chromosome files, there is a supplementary information file dated March 2004 which contains additional sequence information.
  • {{Internet Archive author |sname=Human Genome Project}}
{{Genomics}}{{Personal genomics}}{{Great apes}}{{Wellcome Trust}}{{History of biology}}{{Authority control}}

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