Special Issue "Grand Celebration: 10th Anniversary of the Human Genome Project"

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A special issue of Genes (ISSN 2073-4425).

Deadline for manuscript submissions: closed (30 November 2013)

Special Issue Editors

Guest Editor
Prof. Dr. Karen E. Nelson
President, J. Craig Venter Institute (JCVI), 9704 Medical Center Drive, Rockville, MD 20850, USA
Website: http://www.jcvi.org/cms/about/bios/knelson
E-Mail: knelson@jcvi.org
Phone: +1 301 795 7000
Fax: +1 301 838 0208
Interests: microbiology; genomics; metagenomics; proteomics; trancriptomics; microbial physiology

Guest Editor
Prof. Sir John Burn
1. Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle NE1 3BZ, UK
2. Genetics Chair, National Institute of Health Research, Chief Medical Officer, QuantuMDx ltd, UK
Website: http://www.ncl.ac.uk/igm/staff/profile/john.burn
E-Mail: john.burn@ncl.ac.uk
Interests: clinical and cancer genetics; cancer chemoprevention; nanowire DNA diagnostics

Guest Editor
Prof. Dr. James R. Lupski
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B, MS BCM225, Houston, TX, 77030, USA
Website: http://www.bcm.edu/genetics/facultyaz/lupski.html
E-Mail: jlupski@bcm.edu
Phone: +1 713 798 6530
Fax: +1 713 798 5073
Interests: genomic disorders; genome rearrrangements; neurogenetics; genomics; human genetics; personal genome sequencing; medical genetics

Guest Editor
Prof. Pabulo Henrique Rampelotto
Interdisciplinary Center for Biotechnology Research, Federal University of Pampa, Antônio Trilha Avenue, P.O.Box 1847, 97300-000, São Gabriel–RS, Brazil
Website: https://lifeboat.com/ex/bios.pabulo.henrique.rampelotto
E-Mail: p.rampelotto@mail.ufsm.br
Interests: origins of life; extremophiles; astrobiology; metagenomics; next generation sequencing; molecular biology and biochemistry of microorganisms; biotechnology; and space science (Solar System exploration)

Special Issue Information

Dear Colleagues,

In 1990, scientists began working together on one of the largest biological research projects ever proposed. The project proposed to sequence the 3 billion nucleotides in the human genome. The Human Genome Project took 13 years and was completed on April 2003 at a cost of approximately three billion dollars. It was a major scientific achievement that forever changed the understanding of our own nature. The sequencing of the human genome was in many ways a triumph for technology as much as it was for science. From the Human Genome Project powerful technologies have been developed (e.g. microarrays and next generation sequencing) and new branches of science have emerged (e.g. functional genomics and pharmacogenomics), paving new ways for advancing genomic research and medical applications of genomics in the 21th Century. The investigations have provided new tests and drug targets as well as insights into the basis of human development and diagnosis/treatment of cancer and several mysterious humans diseases. This genomic revolution is prompting a new era in medicine, which brings both challenges and opportunities. Parallel to the promising advances over the last decade, the study of the human genome has also revealed how complicated human biology is, and how much remains to be understood. The legacy of the understanding of our genome has just begun. To celebrate the 10th anniversary of the essential completion of the Human Genome Project, Genes launched in April 2013 this special issue which will highlight the recent scientific breakthroughs on human genomics with a collection of papers written by authors who are leading experts in the field.

Prof. Dr. Karen E. Nelson
Prof. Sir John Burn
Prof. Dr. James R. Lupski
Mr. Pabulo Henrique Rampelotto
Guest Editors

Submission

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed Open Access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.


Keywords

  • gene structure, expression and regulation
  • molecular basis of human genetic disease
  • genetics and genomics of model organisms for human diseases
  • human genetics
  • cancer genetics
  • functional genomics
  • stem cells in human genetics
  • pharmacogenomics and gene therapy
  • genetic and genomic technologies
  • genomic medicine
  • gene therapy and personal genomics

Published Papers (37 papers)

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Displaying article 1-37
p. 821-864
by  and
Genes 2014, 5(3), 821-864; doi:10.3390/genes5030821
Received: 22 June 2014; in revised form: 17 August 2014 / Accepted: 1 September 2014 / Published: 16 September 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 792-803
by ,  and
Genes 2014, 5(3), 792-803; doi:10.3390/genes5030792
Received: 8 August 2014; in revised form: 29 August 2014 / Accepted: 1 September 2014 / Published: 5 September 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 748-766
by , , , ,  and
Genes 2014, 5(3), 748-766; doi:10.3390/genes5030748
Received: 20 May 2014; in revised form: 20 July 2014 / Accepted: 18 August 2014 / Published: 1 September 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 739-747
by ,  and
Genes 2014, 5(3), 739-747; doi:10.3390/genes5030739
Received: 13 June 2014; in revised form: 14 August 2014 / Accepted: 18 August 2014 / Published: 29 August 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 709-725
by , , , , , , , , ,  and
Genes 2014, 5(3), 709-725; doi:10.3390/genes5030709
Received: 13 May 2014; in revised form: 23 July 2014 / Accepted: 14 August 2014 / Published: 25 August 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 635-655
by  and
Genes 2014, 5(3), 635-655; doi:10.3390/genes5030635
Received: 24 January 2014; in revised form: 6 August 2014 / Accepted: 7 August 2014 / Published: 14 August 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 615-634
by ,  and
Genes 2014, 5(3), 615-634; doi:10.3390/genes5030615
Received: 4 April 2014; in revised form: 7 July 2014 / Accepted: 14 July 2014 / Published: 4 August 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 536-560
by  and
Genes 2014, 5(3), 536-560; doi:10.3390/genes5030536
Received: 18 March 2014; in revised form: 27 May 2014 / Accepted: 27 June 2014 / Published: 22 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 561-575
by
Genes 2014, 5(3), 561-575; doi:10.3390/genes5030561
Received: 27 March 2014; in revised form: 20 June 2014 / Accepted: 24 June 2014 / Published: 22 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 576-585
by  and
Genes 2014, 5(3), 576-585; doi:10.3390/genes5030576
Received: 27 May 2014; in revised form: 4 July 2014 / Accepted: 7 July 2014 / Published: 22 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 586-603
by  and
Genes 2014, 5(3), 586-603; doi:10.3390/genes5030586
Received: 28 April 2014; in revised form: 25 June 2014 / Accepted: 1 July 2014 / Published: 22 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 604-614
by , , , , , ,  and
Genes 2014, 5(3), 604-614; doi:10.3390/genes5030604
Received: 9 April 2014; in revised form: 4 July 2014 / Accepted: 10 July 2014 / Published: 22 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 518-535
by ,  and
Genes 2014, 5(3), 518-535; doi:10.3390/genes5030518
Received: 4 March 2014; in revised form: 3 June 2014 / Accepted: 24 June 2014 / Published: 16 July 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 477-496
by , , , ,  and
Genes 2014, 5(2), 477-496; doi:10.3390/genes5020477
Received: 8 April 2014; in revised form: 24 May 2014 / Accepted: 27 May 2014 / Published: 11 June 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 444-459
by  and
Genes 2014, 5(2), 444-459; doi:10.3390/genes5020444
Received: 7 January 2014; in revised form: 5 May 2014 / Accepted: 8 May 2014 / Published: 28 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 460-476
by  and
Genes 2014, 5(2), 460-476; doi:10.3390/genes5020460
Received: 27 December 2013; in revised form: 13 May 2014 / Accepted: 15 May 2014 / Published: 28 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 430-443
by ,  and
Genes 2014, 5(2), 430-443; doi:10.3390/genes5020430
Received: 23 April 2014; in revised form: 5 May 2014 / Accepted: 8 May 2014 / Published: 26 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 415-429
by , , , , , ,  and
Genes 2014, 5(2), 415-429; doi:10.3390/genes5020415
Received: 3 March 2014; in revised form: 30 April 2014 / Accepted: 6 May 2014 / Published: 16 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 385-414
by  and
Genes 2014, 5(2), 385-414; doi:10.3390/genes5020385
Received: 3 March 2014; in revised form: 16 April 2014 / Accepted: 21 April 2014 / Published: 13 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 366-384
by , , , ,  and
Genes 2014, 5(2), 366-384; doi:10.3390/genes5020366
Received: 17 February 2014; in revised form: 1 April 2014 / Accepted: 15 April 2014 / Published: 12 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 347-365
by , , , , , , ,  and
Genes 2014, 5(2), 347-365; doi:10.3390/genes5020347
Received: 7 February 2014; in revised form: 31 March 2014 / Accepted: 16 April 2014 / Published: 5 May 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 330-346
by , , , , , , , , , , , ,  and
Genes 2014, 5(2), 330-346; doi:10.3390/genes5020330
Received: 31 December 2013; in revised form: 20 March 2014 / Accepted: 27 March 2014 / Published: 10 April 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 310-329
by , , ,  and
Genes 2014, 5(2), 310-329; doi:10.3390/genes5020310
Received: 17 December 2013; in revised form: 5 March 2014 / Accepted: 27 March 2014 / Published: 9 April 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 285-309
by ,  and
Genes 2014, 5(2), 285-309; doi:10.3390/genes5020285
Received: 2 December 2013; in revised form: 11 March 2014 / Accepted: 12 March 2014 / Published: 4 April 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 270-284
by  and
Genes 2014, 5(2), 270-284; doi:10.3390/genes5020270
Received: 25 December 2013; in revised form: 7 March 2014 / Accepted: 10 March 2014 / Published: 27 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 235-253
by
Genes 2014, 5(1), 235-253; doi:10.3390/genes5010235
Received: 17 January 2014; in revised form: 3 March 2014 / Accepted: 5 March 2014 / Published: 14 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 214-234
by  and
Genes 2014, 5(1), 214-234; doi:10.3390/genes5010214
Received: 16 January 2014; in revised form: 26 February 2014 / Accepted: 27 February 2014 / Published: 12 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 176-195
by , , , , ,  and
Genes 2014, 5(1), 176-195; doi:10.3390/genes5010176
Received: 21 January 2014; in revised form: 14 February 2014 / Accepted: 14 February 2014 / Published: 11 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 196-213
by , ,  and
Genes 2014, 5(1), 196-213; doi:10.3390/genes5010196
Received: 26 December 2013; in revised form: 24 February 2014 / Accepted: 24 February 2014 / Published: 11 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 108-146
by ,  and
Genes 2014, 5(1), 108-146; doi:10.3390/genes5010108
Received: 9 December 2013; in revised form: 7 February 2014 / Accepted: 11 February 2014 / Published: 5 March 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 97-105
by  and
Genes 2014, 5(1), 97-105; doi:10.3390/genes5010097
Received: 22 January 2014; in revised form: 17 February 2014 / Accepted: 18 February 2014 / Published: 27 February 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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p. 65-83
by ,  and
Genes 2014, 5(1), 65-83; doi:10.3390/genes5010065
Received: 18 December 2013; in revised form: 31 January 2014 / Accepted: 8 February 2014 / Published: 26 February 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 84-96
by
Genes 2014, 5(1), 84-96; doi:10.3390/genes5010084
Received: 8 January 2014; in revised form: 11 February 2014 / Accepted: 12 February 2014 / Published: 26 February 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 51-64
by  and
Genes 2014, 5(1), 51-64; doi:10.3390/genes5010051
Received: 25 November 2013; in revised form: 3 January 2014 / Accepted: 20 January 2014 / Published: 27 January 2014
Show/Hide Abstract | Cited by 1 | PDF Full-text (179 KB) | HTML Full-text | XML Full-text
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 33-50
by  and
Genes 2014, 5(1), 33-50; doi:10.3390/genes5010033
Received: 9 December 2013; in revised form: 9 January 2014 / Accepted: 10 January 2014 / Published: 23 January 2014
Show/Hide Abstract | Cited by 1 | PDF Full-text (1572 KB) | HTML Full-text | XML Full-text
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 1-12
by  and
Genes 2014, 5(1), 1-12; doi:10.3390/genes5010001
Received: 15 November 2013; in revised form: 2 December 2013 / Accepted: 8 January 2014 / Published: 22 January 2014
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(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
p. 13-32
by ,  and
Genes 2014, 5(1), 13-32; doi:10.3390/genes5010013
Received: 20 November 2013; in revised form: 8 January 2014 / Accepted: 10 January 2014 / Published: 22 January 2014
Show/Hide Abstract | Cited by 4 | PDF Full-text (887 KB) | HTML Full-text | XML Full-text | Supplementary Files
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Last update: 15 May 2014

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