Impact of the human genome assignment on biology and generation.
Abstract
The Human Genome Project has revolutionized biology by deciphering a reference human genome sequence along with many other organisms’ complete sequences. The project reflects a great example of integrated inter-disciplinary approach to develop sophisticated technology and brought engineers, computer scientists and mathematicians at one platform with biologists. Further improvements have made from projects ENCODE, to find functional elements of genome; and Human Proteome Project, to map human proteins through the genetic map. Moving one step ahead, the gaps that were present to study evolution of many species are now decreasing due to better understanding of the genome. There has been an open approach to data sharing and open-source software, thereby data is publicly accessible for more breakthroughs from data banks such as GenBank. Physicians approach to practice medicine is changing and becoming more personalized as a result of this project. There has been development in treatments of many diseases for example through genome-wide association studies. Diseases prognosis and risk can be now more accurately predicted through the advancements in HGP. However, we are still in initial stages and in the process of understanding the huge data generated by HGP and its implications. Moreover, the ethical, social and political issues that arise due to this genetic research needs to be addressed alongside.
Downloads
References
Mapping and Sequencing the Human Genome. Washington, D.C.: National Academies Press; 1988
Report on the Human Genome Initiative for the Office of Health and Environmental Research. (cited 2019 Oct 7).
Lander E. Finishing the euchromatic sequence of the human genome International Human Genome Sequencing Consortium. Nature. 2004; 431:931-45.
DOI: https://doi.org/10.1038/nature03001
Smith LM, Sanders JZ, Kaiser RJ, Hughes P, Dodd C, Connell CR, et al. Fluorescence detection in automated DNA sequence analysis. Nature. 1986; 321(6071):674-9.
DOI: https://doi.org/10.1038/321674a0
Venter JC, Adams MD, Sutton GG, Kerlavage AR, Smith HO, Hunkapiller M. Shotgun sequencing of the human genome. Science. 1998 Jun 5.
Shendure J, Aiden EL. The expanding scope of DNA sequencing. Nature Biotec. 2012; 30(11):1084.
DOI: https://doi.org/10.1038/nbt.2421
Hood L. A personal journey of discovery: developing technology and changing biology. Annu Rev Anal Chem (Palo Alto Calif). 2008
ENCODE: Encyclopedia of DNA Elements – ENCODE. (cited 2019 Oct 7).
Hood L, Rowen L. The human genome project: big science transforms biology and medicine. Genome Med. 2013; 5(9):79. DOI: https://doi.org/10.1186/gm483
Omenn GS. The HUPO Human Proteome Project (HPP), a Global Health Research Collaboration. Cent Asian J Glob Hea. 2012; 1(1).
DOI: https://doi.org/10.5195/cajgh.2012.37
Desiere F, Deutsch EW, King NL, Nesvizhskii AI, Mallick P, Eng J, et al. The PeptideAtlas project. Nucleic Acids Res. 2006
Deutsch EW, Mendoza L, Shteynberg D, Farrah T, Lam H, Tasman N, et al. A guided tour of the Trans-Proteomic Pipeline. Proteomics. 2010 Mar.
González-Gomariz J, Guruceaga E, López-Sánchez M, Segura V. Proteogenomics in the context of the Human Proteome Project (HPP). Expert Rev Proteomics. 2019 Mar.
Theobald DL. A formal test of the theory of universal common ancestry. Nature. 2010 May 13.
Stoneking M, Krause J. Learning about human population history from ancient and modern genomes. Nat Rev Genet. 2011 Aug 18 (cited 2019 Oct 7);12(9):603-14.
Schatz MC. Computational thinking in the era of big data biology. Genome Biol. 2012 Nov 29 (cited 2019 Oct 7);13(11):177.
Mizrachi I. Chapter 1: GenBank: The Nuckeotide Sequence Database. The NCBI Handbook. 2002:1-4.
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002 Jun.
Bioconductor - Home. (cited 2019 Oct 7).
Rabilloud T, Hochstrasser D, Simpson RJ. A gene-centric human proteome project: HUPO--the Human Proteome organization. Mol Cell Proteomics. 2010 Feb (cited 2019 Oct 7); 9(2):427-9.
Aebersold R, Mann M. Mass spectrometry-based proteomics. Nature. 2003; 422(6928):198.
DOI: https://doi.org/10.1038/nature01511
Belmont JW, Boudreau A, Leal SM, Hardenbol P, Pasternak S, Wheeler DA, et al. A haplotype map of the human genome. Nature. 2005; 437(7063):1299–320.
DOI: https://doi.org/10.1038/nature04226
Altshuler DM, Gibbs RA, Peltonen L, Schaffner SF, Yu F, Dermitzakis E, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 2010; 467(7311):52–8.
DOI: https://doi.org/10.1038/nature09298
Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;4 91(7422):56.
DOI: https://doi.org/10.1038/nature11632
GWAS Catalog. (cited 2019 Oct 7).
Simón-Sánchez J, Singleton A. Genome-wide association studies in neurological disorders. Lancet Neurol. 2008 Nov (cited 2019 Oct 7);7(11):1067-72.
The Cancer Genome Atlas Program - National Cancer Institute. (cited 2019 Oct 7).
Hood L, Flores M. A personal view on systems medicine and the emergence of proactive medicine: predictive, preventive, personalized and participatory. N Biotechnol. 2012 Sep 15 (cited 2019 Oct 7); 29(6):613-24.
Knoppers BM, Thorogood A, Chadwick R. The Human Genome Organisation: towards next-generation ethics. Genome Med. 2013; 5(4):38.
DOI: https://doi.org/10.1186/gm442
Foster MW, Sharp RR. Beyond race: towards a whole-genome perspective on human populations and genetic variation. Nat Rev Genet. 2004 Oct (cited 2019 Oct 7);5(10):790-6.
Horton RH, Lucassen AM. Recent developments in genetic/genomic medicine. Clinical Science. 2019; 133(5):697-708.
DOI: https://doi.org/10.1042/CS20180436
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Ame J of Human Gen. 2016; 98(6):1067-76.
Copyright (c) 2020 Journal of Shifa Tameer-e-Millat University
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Journal of Shifa Tameer-e-Millat University (JSTMU) is the owner of all copyright to any work published in the journal. Any material printed in JSTMU may not be reproduced without the permission of the editors or publisher. The Journal accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing and/or decision in this journal. The Editorial Board makes every effort to ensure the accuracy and authenticity of material printed in the journal. However, conclusions and statements expressed are views of the authors and do not necessarily reflect the opinions of the Editorial Board or JSTMU.
Content of this journal is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
