Impact of the human genome assignment on biology and generation.

  • Sumreena Mansoor Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan
  • Almas Ashraf Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan
Keywords: Human genome project, proteomes, genome-wide association study, gene mapping

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

Download data is not yet available.

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.

DOI: https://doi.org/10.1016/j.ajhg.2016.03.024

Published
2020-08-09
How to Cite
1.
Mansoor S, Ashraf A. Impact of the human genome assignment on biology and generation. JSTMU [Internet]. 9Aug.2020 [cited 23Oct.2020];3(1):58 -61. Available from: https://j.stmu.edu.pk/ojs/index.php/jstmu/article/view/78