BÖLÜM


DOI :10.26650/B/ET07.2021.003.08   IUP :10.26650/B/ET07.2021.003.08    Tam Metin (PDF)

Biyoenformatik

Orçun TaşarÇiğdem Erol

Biyoloji, moleküler biyoloji, biyoteknoloji ve genetik gibi alanlarda yapılan çalışmalarda hızlı ve büyük miktarlardaki veri üretimi ve akışı, yüksek hesaplamalı yöntemlerin gerekliliğini doğurmuştur. Toplanan bu büyük boyutlu verinin organize edilmesi, formatlanması, saklanabilmesi ve yetkili kişilerce erişilebilir ve paylaşılabilir olması gerekmektedir. Tüm bunların yanında, dolaşımda bulunan büyük biyolojik verinin hızlı bir şekilde işlenip analiz edilerek tutarlı ve güvenilir sonuçların elde edilmesinin önemi de yadsınamazdır. İnsan Genom Projesi ile tetiklenen veri üretim hızındaki yükseliş ile birlikte biyolojik süreçlere dair bildiklerimizin sayısı artarken aynı zamanda bilmediklerimizin miktarının da artması, laboratuvarlarda üretilen verinin tek başına bir ‘cevap’ olmadığını göstermektedir. Verinin interdisipliner metodolijilerle yönetilmesi de en az verinin üretilmesi kadar sürecin önemli bir parçasıdır. Bu noktada biyoloji temelli disiplinler ile matematik, istatistik ve bilgisayar bilimlerinin kesişiminde duran biyoenformatik alanı dahilinde son yetmiş yılda geliştirilen metodolojiler bahsi geçen problem ve ihtiyaçların çözümünde günümüzde sıklıkla kullanılır hale gelmiştir. Dünyada ve ülkemizdeki çeşitli üniversitelerde biyoenformatik eğitimi veren lisansüstü programlar açılmış vaziyettedir. Sadece biyoenformatik alanında gerçekleştirilen çalışmaların yayınlandığı bilimsel dergilerin sayısı da gün geçtikçe artmaktadır. Bilimsel çevredeki bu dönüşüm, bu alanda şimdiye kadar geliştirilmiş tekniklerin daha ileriye taşınmasını sağlamaktadır. Kısa proteinlerin amino asit dizilimlerinin saptanması ihtiyacı ile doğan biyoenformatik artık çok daha karmaşık problemlerin çözülmesinde bilim ve tıp dünyasına yardımcı olmakta, aynı zamanda bu alan dahilinde oluşturulan enformasyonla birlikte toplumun da etik ve sosyo kültürel anlamda dönüşmesini sağlamaktadır. Bu kitap bölümünde, biyoenformatiğin ne olduğu, hangi aşamalardan geçerek günümüzdeki halini aldığı ve ne tip uygulama ve veritabanları ile hangi araştırmalarda kullanıldığından bahsedilerek sağlık üzerindeki etkisi ve gelecekte biyoenformatik ile şekillenecek biyoloji ve tıp dünyası tartışılmıştır.


DOI :10.26650/B/ET07.2021.003.08   IUP :10.26650/B/ET07.2021.003.08    Tam Metin (PDF)

Bioinformatics

Orçun TaşarÇiğdem Erol

The rapid and large amount of data generation and flow in fields such as biology, molecular biology, biotechnology, and genetics have led to the necessity of high computational methods. These collected large-scale data need to be organized, formatted, stored, accessed, and shared by authorized persons. In addition to all these steps, the importance of obtaining consistent and reliable results by rapidly processing and analyzing the large biological data that are in circulation is undeniable. With the increase in the speed of data generation triggered by the Human Genome Project, the amount of what we know about the biological processes along with the amount of what we do not know has increased. This phenomenon indicates that the data produced in laboratories is not an “answer” alone. Managing the data with interdisciplinary methodologies is an important part of the process as much as producing the data. At this point, the methodologies developed in the last seven decades within the field of bioinformatics, which stands at the intersection of biology-based disciplines, mathematics, statistics, and computer sciences, have become frequently used today in solving the aforementioned problems and needs. Postgraduate programs that provide bioinformatics education have been offered by various universities in the world and in our country. The number of scientific journals in which only bioinformatics studies are published is increasing every day. This transformation in the scientific environment enables the techniques developed so far in this field to be carried forward. Bioinformatics, which emerged with the need to determine the amino acid sequences of short proteins, now helps the science and medicine world in solving much more complex problems. At the same time, it enables the society to transform in ethical and sociocultural terms with the information it creates. This section discusses the world of biology and medicine that will be shaped by bioinformatics in the future by mentioning what bioinformatics is, what stages it has taken to become its current form, and what types of applications and databases it uses in which type of research works.



Referanslar

  • Angarica, V. E., & Del Sol, A. (2017). Bioinformatics Tools for Genome-Wide Epigenetic Research. Advances in experimental medicine and biology, 978, 489-512. https://doi.org/10.1007/978-3-319-53889-1_25 google scholar
  • Barba M., Czosnek H., and Hadidi A. (2014) Historical perspective, development and applications of next-ge-neration sequencing in plant virology. Viruses 6:106-136. google scholar
  • Bertholee, D., Maring, J. G., & van Kuilenburg, A. B. (2017). Genotypes Affecting the Pharmacokinetics of Anticancer Drugs. Clinical pharmacokinetics, 56(4), 317-337. https://doi.org/10.1007/s40262-016-0450-z google scholar
  • Dayhoff MO, Ledley RS. Comprotein: a computer program to aid primary protein structure determination. In: Proceedings of the December 4-6, 1962, Fall Joint Computer Conference. New York, NY: ACM, 1962, 262-74. google scholar
  • Dayhoff MO; National Biomedical Research Foundation. Atlas of Protein Sequence and Structure, Vol. 1. Silver Spring, MD: National Biomedical Research Foundation, 1965. google scholar
  • Edman P. A method for the determination of amino acid sequence in peptides. Arch Biochem 1949;22:475. google scholar
  • El Allali, A., Arshad, M. MZPAQ: a FASTQ data compression tool. Source Code Biol Med 14, 3 (2019). https:// doi.org/10.1186/s13029-019-0073-5 google scholar
  • Gurovich, Y., Hanani, Y., Bar, O. et al. Identifying facial phenotypes of genetic disorders using deep learning. Nat Med 25, 60-64 (2019). https://doi.org/10.1038/s41591-018-0279-0 google scholar
  • Gürsoy, G., Bjornson, R., Green, M. E., & Gerstein, M. (2020). Using blockchain to log genome dataset access: efficient storage and query. BMC medical genomics, 13(Suppl 7), 78. https://doi.org/10.1186/s12920-020-0716-z google scholar
  • Hagen JB. The origins of bioinformatics. Nat Rev Genet 2000;1:231-6. google scholar
  • Hesper B, Hogeweg P (1970), Bioinformatica: een werkconcept. Kameleon 1(6): 28-29. (In Dutch.) Leiden: Leidse Biologen Club. google scholar
  • Hogeweg P (2011), The Roots of Bioinformatics in Theoretical Biology. PLoS Comput Biol 7(3): e1002021. doi:10.1371/journal.pcbi.1002021 google scholar
  • Hood, L., & Rowen, L. (2013). The Human Genome Project: big science transforms biology and medicine. Genome medicine, 5(9), 79. https://doi.org/10.1186/gm483 google scholar
  • Hosseini, M., Pratas, D., & Pinho, A. J. (2019). Cryfa: a secure encryption tool for genomic data. Bioinformatics (Oxford, England), 35(1), 146-148. https://doi.org/10.1093/bioinformatics/bty645 google scholar
  • International Human Genome Sequencing Consortium (2004). Finishing the euchromatic sequence of the human genome. Nature, 431(7011), 931-945. https://doi.org/10.1038/nature03001 google scholar
  • Jeff Gauthier, Antony T Vincent, Steve J Charette, Nicolas Derome, A brief history of bioinformatics, Briefings in Bioinformatics, Volume 20, Issue 6, November 2019, Pages 1981-1996, https://doi.org/10.1093/bib/bby063 google scholar
  • Kent W. J. (2002). BLAT--the BLAST-like alignment tool. Genome research, 12(4), 656-664. https://doi. org/10.1101/gr.229202 google scholar
  • Kuznetsov, V., Lee, H. K., Maurer-Stroh, S., Molnar, M. J., Pongor, S., Eisenhaber, B., & Eisenhaber, F. (2013). How bioinformatics influences health informatics: usage of biomolecular sequences, expression profiles and automated microscopic image analyses for clinical needs and public health. Health information science and systems, 1, 2. https://doi.org/10.1186/2047-2501-1-2 google scholar
  • Lundervold, A. S., & Lundervold, A. (2019). An overview of deep learning in medical imaging focusing on MRI. Zeitschrift fur medizinische Physik, 29(2), 102-127. https://doi.org/10.1016/j.zemedi.2018.11.002 google scholar
  • Ma, S., Cao, Y., & Xiong, L. (2020). Efficient logging and querying for blockchain-based cross-site genomic dataset access audit. BMC medical genomics, 13(Suppl 7), 91. https://doi.org/10.1186/s12920-020-0725-y google scholar
  • Majhi, Vinayak & Paul, Sudip & Jain, Rachna. (2019). Bioinformatics for Healthcare Applications. 204-207. 10.1109/AICAI.2019.8701277. google scholar
  • Margulies M., et al. (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437:376-380. google scholar
  • Murata M, Richardson JS, Sussman JL. Simultaneous comparison of three protein sequences. Proc Natl Acad Sci USA 1985;82:3073-7. google scholar
  • Needleman SB, Wunsch CD. A general method applicable to the search for similarities in the amino acid sequ-ence of two proteins. J Mol Biol 1970;48:443-53. google scholar
  • NHGRI. Human Genome Project Completion: Frequently Asked Questions. National Human Genome Resear-ch Institute (NHGRI). https://www.genome.gov/human-genome-project/Completion-FAQ (Son erişim, 10 Ağustos 2020). google scholar
  • Özkan, Y., Selçukcan Erol, Ç., 2019. Kanser Biyoenformatiğinde Yapay Zeka, Papatya Bilim, İstanbul. google scholar
  • Pauling L, Zuckerkandl E. Chemical paleogenetics: molecular “restoration studies” of extinct forms of life. Acta Chem Scand 1963;17:S9-16 google scholar
  • Sallah, S.R., Sergouniotis, P.I., Barton, S. et al. Using an integrative machine learning approach utilising homo-logy modelling to clinically interpret genetic variants: CACNA1F as an exemplar. Eur J Hum Genet (2020). https://doi.org/10.1038/s41431-020-0623-y google scholar
  • Sanger F, Thompson EOP. The amino-acid sequence in the glycyl chain of insulin. I. The identification of lower peptides from partial hydrolysates. Biochem J 1953;53:353-66. google scholar
  • Sanger F, Thompson EOP. The amino-acid sequence in the glycyl chain of insulin. II. The investigation of pep-tides from enzymic hydrolysates. Biochem J 1953;53:366-74. google scholar
  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-7. google scholar
  • Schwarze, K., Buchanan, J., Fermont, J.M. et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med 22, 85-94 (2020). https://doi.org/10.1038/s41436-019-0618-7 google scholar
  • Smith, Temple F. & Waterman, Michael S. (1981). “Identification of Common Molecular Subsequences” (PDF). Journal of Molecular Biology. 147 (1): 195-197. CiteSeerX 10.1.1.63.2897. doi:10.1016/0022-2836(81)90087-5. PMID 7265238. google scholar
  • Standard Specification for NovaSeq™ 6000 Sequencing System, Illumina. (2019). google scholar
  • Stephen F. Altschul, Thomas L. Madden, Alejandro A. Schaffer, Jinghui Zhang, Zheng Zhang, Webb Miller, David J. Lipman, Gapped BLAST and PSI-BLAST: a new generation of protein database search programs, Nucleic Acids Research, Volume 25, Issue 17, 1 September 1997, Pages 3389-3402, https://doi.org/10.1093/ nar/25.17.3389 google scholar
  • Topol, E. (2019). Preparing the healthcare workforce to deliver the digital future (An independent report on behalf of the Secretary of State for Health and Social Care), https://topol.hee.nhs.uk/wp-content/uploads/ HEE-Topol-Review-2019.pdf (Son erişim, 11 Ağustos 2020). google scholar
  • Zuckerkandl, E. and Pauling, L.B. (1962). “Molecular disease, evolution, and genic heterogeneity”. In Kasha, M.; Pullman, B (eds.). Horizons in Biochemistry. Academic Press, New York. pp. 189-225. google scholar


PAYLAŞ




İstanbul Üniversitesi Yayınları, uluslararası yayıncılık standartları ve etiğine uygun olarak, yüksek kalitede bilimsel dergi ve kitapların yayınlanmasıyla giderek artan bilimsel bilginin yayılmasına katkıda bulunmayı amaçlamaktadır. İstanbul Üniversitesi Yayınları açık erişimli, ticari olmayan, bilimsel yayıncılığı takip etmektedir.