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history of bioinformatics slideshare

Early in the course, we looked at medical coding, and vocabularies more generally. BIOINFORMATICS INSTITUTE OF INDIA HISTORY AND SCOPE OF BIOINFORMATICS • 1859 – The “On the Origin of Species”, published by Charles Darwin that introduced theory of genetic evolution – allows adaptation over time to produce organisms best suited to the environment. Automated algorithms have been developed to help to analyze the data, and to more easily identify the 1% of the individual’s genome that is unique. A year later the picture looked like this. It presents the case for individual ownership of a person’s genome and its information, and shows the implications of that position for rights to informed consent and privacy over sequencing, testing, and disclosing genomic information about identifiable individuals. This can be raw data from experiments, genetic sequences and expressions, images, software systems, and basically any other data that a computer can handle. Will include not only SNPs, but also rearrangements, deletions, and duplications. Demonstrated the value of consideration of the societal impact of science Demonstrated the value of public release, rather than hoarding, of data International HapMap Project Overview ( from http://www.genome.gov/10001688 ) The elucidation of the entire human genome has made possible our current effort to develop a haplotype map of the human genome. On this slide we step back to see some of the methodological commonalities, and point out the informatics related techniques and tools. The HapMap is a map of these haplotype blocks and the specific SNPs that identify the haplotypes are called tag SNPs. • 1951 – Linus … High is the opposite. http://www.bioethics.net ajob 1 The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals John A. Robertson The University of Texas School of Law Abstract Progress in gene sequencing could make rapid whole genome sequencing of individuals affordable to millions of persons and useful for many purposes in a future era of genomic medicine. Statistical methods in bioinformatics Brief introduction, statistical models, dimension reductions. So a case of breast cancer is currently described by an alphabet soup of terms (HER2 status, PR-progesterone status, ER-estrogen status, …. The implication for genomic research is that bioinformatics tools, indeed the field itself, has become transformed through a growth in computational power. “You just hit a button and it does what might take a biologist 600 hours to do, in about five hours,” says Mark Haselup, chief technical officer for the company. This slide shows that managing information in clinical applications extends further out to even the patients themselves. is known as the "Father of Genetics". Above is a schematic outlining how scientists can use bioinformatics to aid rational drug discovery. This makes genome scan approaches to finding regions with genes that affect diseases much more efficient and comprehensive, since effort is not wasted typing more SNPs than necessary and all regions of the genome can be included. The DNA sequence of any two people is 99.5 percent identical. “ He meant that people will avoid an information system because it gives them information. However, there is not much concern about the diarrhoeal diseases caused by several viruses and bacteria, which can be used as bioweapons. Flatley said a developer at Illumina put the application together in just 10 days. Claus Thorn Ekstr˝m Biostatistics, University of Copenhagen E-mail:ekstrom@sund.ku.dk ... A bit of history 2000 one SNP 2003 10 SNPs 2006 500 SNPs 2009 22k SNPs 2012 2.5 … Clipping is a handy way to collect important slides you want to go back to later. Others are hooking up their software to catalogues of reagents. Originally, it dealt with the management and analysis of the data pertaining to DNA, RNA and protein sequences. Secondly, the reference standard should be applied to ALL samples, whether negative or positive so as to avoid test referral bias which can produce over or under estimates of sensitivity and specificity. There are many definitions of bioinformatics, but they all share the concept that it is an interdisciplinary endeavor that hopes to advance biological understanding through computational means. Bioinformatics David Gilbert Bioinformatics Research Centre www.brc.dcs.gla.ac.uk Department of Computing Science, University of Glasgow ... •Population history •Rates of evolutionary change •Origins of diseases •Prediction of sequence function •Can be applied to … We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Bioinformatics involves the use of computers to collect, organize and use biological information to answer questions in fields like evolutionary biology. We also have considered that we need to manage the communications among researchers, and their findings. GCG History (tools) Founded in 1982 as a service of the Department of Genetics at the University of Wisconsin, GCG became a private company in 1990 and was acquired by Oxford Molecular Group in 1997. At the beginning of this year, it cost $5000. The project didn’t test some theory except in any broad sense. Fourthly, to make the testing valid, the sample population used needs to resemble the population for which the surveillance system was designed. It used to be the case that cancer treatment was driven by features of how the cancer appeared: location, size, and spread. For the non-techies, the more widely known Moore’s Law is not really a law in the natural or legal sense. With a full history available, or even in the medical record, the patient and physician can work together. This bill took 13 years to push through and it took effort to craft the bill. Now, in is the normal practice to include protein and genetic assays describe the tumor on a molecular level. This frees up physicians to practice good medicine. This most certainly has impacted genomics and leads us back to the next slide. The basic idea is to take traditional laboratory methods, the bench methods, automate them using robotics, in order to conduct highly parallel research. Academic Calendar; College Documentation Clinically relevant information is growing very quickly In fields like oncology, patients are becoming more involved in the research activities Providing knowledge support, and facilitating professional development in genomics is an obvious role for informatics http://www.nchpeg.org Need a standardize language of genomics in clinical work Biomedical Ontologies (bioontology.org) EMRs/PHRs will need to include this EMRs/PHRs may be a location for in silico genome EMR data informs clinical genomics research NCHPEG: National Coalition for Health Professional Education in Genetics Example problem: oncology, lab data for certain genetic test, performed by contracted facilities, reports scanned into EMR and exist as PDF, which makes it somewhat inaccessible to decision support. As we read in the “Roundtable on Bioterrorism Detection,” multiple models of data collection and management are being tested throughout the United States; all seek to detect early outbreaks, maintain security, and confidentiality while collecting data to detect similarities in symptom development, geographic location, etc. Unique challenges have to do with the shear volume of data that is generated in bioinformatics applications, and how to store, collect, analyze and display it. See our Privacy Policy and User Agreement for details. They then conducted a gene-traits expression study in order to test the feasibility of using such a system for genomic discovery research, using standard bioinformatics tools. And, projecting this out we get this. Although the clinical applications are many, it is a part of the basic biological sciences. Before we get to that, we would be remiss in not mentioning the other [mors] law, given that this is an informatics course. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. And from its start earmarked funds for consideration of its ethical, legal, and social implications (ELSI) - the greatest funding ever devoted to bioethics We quoted Guttmacher in an earlier slide: The project… Produced the human genome sequence Spawned a new field: genomics Spurred new technologies And now provides us an unparalleled opportunity to apply new knowledge, technologies, and approaches to health care A centrally-coordinated “big” science project that was not hypothesis driven. Let’s take a brief look at the results of genomic studies. This bias causes an artificial concordance between the detection system and reference test, which results in overestimates of both sensitivity and specificity. Three years after the Human Genome Project was completed, five loci related to disease conditions were identified. Where machine learning ends, humans, aids by visualization and other modeling tools, take over. This slide shows the cost of sequencing over the last ten years. Since the discovery of the structure of DNA in the 1950’s, biological research has been increasing reliant on information science, its methods, and tools. Welcome to Group 5’s presentation of Bioinformatics for Information Science and Technology Course 648, Health Informatics, Fall 2009, at Drexel University. Of these systems, only 35 systems have been evaluated. 20th Century ... 1864 Essential elements of modern zoology classification (Haeckel) ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 14471-NTA3Z MLH1 is a human gene encoding a mismatch repair protein ( mmr ) situated on the short arm of chromosome 3. The origins of the scientific study of animal behaviour lie in the works of various European thinkers of the 17th to 19th centuries, such as British naturalists John Ray and Charles Darwin and French naturalist Charles LeRoy. BIOINFORMATICS MEETS PUBLIC HEALTH INFORMATICS, BIOINFORMATICS MEETS CONSUMER INFORMATICS. Proteins are structural or functional elements of cells, comprising sequences of amino acids assembled according to templates of DNA and RNAs. Bioinformatics uses computers and algorithms to acquire, manage, and analyze biological information. […] Gregor Mendel. bioinformatics tools or which are under dev elopment based on bioinformatics strategies. Last Updated on January 2, 2020 by Sagar Aryal. The concern was and still is how that information can be used in favor or against a person. Branches of Bioinformatics 3. Legal recognition of a person’s right to control his or her genome and the information that it contains is essential for further progress in applying genomic discoveries to human lives. Clipping is a handy way to collect important slides you want to go back to later. BIOINFORMATICS……….AT A GLANCE The data of Medical Informatics tends to be difficult to replicate due to the subjective nature of clinical observations and the individual variability of the patients. As we’ve read, protecting society requires health surveillance systems that can document the data, synthesize, and share information with other networks. Like all data, genetic information must be put into context, but it is not well suited to the printed medical record. Sites in the DNA sequence where individuals differ at a single DNA base are called single nucleotide polymorphisms (SNPs). http://www.genome.gov/Pages/Research/DER/TCGA/TCGABrochure.pdf Among the most promising strategies are efforts to identify key genetic “targets” within cancer cells and then create therapeutics designed to zero-in on those targets. The next slide from Collin’s presentation underscores this, but says something surprising about the subject matter. Within a given laboratory, work is managed through software, and much of the manual work is automated (workflow software) though robotics; and some of the intellectual work is done through sophisticated algorithms, or even artificial intelligence. Another is that that is gives an opportunity to recapitulate or review some of the informatics ideas and methods discussed previously in other contexts. In addition to its use in studying genetic associations with disease, the HapMap is a powerful resource for studying the genetic factors contributing to variation in response to environmental factors, in susceptibility to infection, and in the effectiveness of and adverse responses to drugs and vaccines. There’s a lot of it. And under budget!! Because Bioinformatics spans so many disciplines, the need for standardized vocabularies, interoperable data systems, security and privacy are especially important. 1. This is one important reason to study it in the context of a health informatics course. Because of their domains and the methods used, the types of data produced are quite different. Much of the work is distributed in space and time. Bioinformatics has been getting a bad rap, too, as “professionals outside the field are cited as considering Bioinformatics research to be easy and cheap, yielding free software, and producing rapid publication of easily verified predictions. From Digitally Enabled Genomic Medicineto Personalized Healthcare, Integrating Genomic Medicine into Patient Care with Trish Brown, MS, CGC, Asia Pacific Medical Technology Association (APACMed), 2016 Dal Human Genetics - Genomics in Medicine Lecture, Towards Digitally Enabled Genomic Medicine: the Patient of The Future, Genomic Medicine: Personalized Care for Just Pennies, No public clipboards found for this slide, operation and Seals Group Manager at AL-Amal Medical Group. There are suggested readings for this, some reference material and websites that we point you can reviewed for background information. In a sense, through our assigned readings, and our perusal of the literature, we’ve been hitchhikers moving from different islands of information looking for sense of connectedness. You can change your ad preferences anytime. Genetic testing results would be known to insurance companies as well as employers. Limitations. These signals tell the cell to grow and divide. A Hitchhikers Guide to Bioinformatics Drexel University INFO648-900-200915 A Presentation of Health Informatics Group 5 Cecilia Vernes Joel Abueg Kadodjomon Yeo Sharon McDowell Hall Terrence Hughes SlideShare.Net: Click on the Notes tab below to … Bioinformatics is an interdisciplinary area of the science composed of biology, mathematics and computer science. He did experiment on the cross-fertilization of … )—all different factors that (1) were identified in the last 10 years through research enabled by bioinformatics, (2) can predict mortality …. A recent Nursing Outlook article discussed what nurses and consumers should know of the –omics research and its implications for consumer health informatics. For the first part of the presentation, we’ll look at the role bioinformatics has played in an explosion of biological information. The degree of damage an organism or a toxin can inflict varies widely and this also depends upon the socio-economic status of the country or sections of her vulnerable population. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. See our User Agreement and Privacy Policy. So, it in this presentation we don’t plan to go in any great depth regarding specific tools and techniques of bioinformatics. The software systems are very complex and while hard to evaluate on their own, in the context of biological inquiry become a huge benefit to solving problems and analyzing data. Bioinformatics and Medical Informatics differ in three significant ways. The field of bioinformatics emerged as a tool to facilitate biological discoveries more than 10 years ago. Research is done in different locations and coordinated via electronic communications. To meet the goals of this presentation, we’ll actually try to answer the question of why bioinformatics should be studied in three parts. New technologies are being developed to address the myriad of issues related to collecting, storing and interpreting the data. What Is Bioinformatics? Advantages 5. 1. Developing a system that allows various software systems to communicate with each other or via the central NEDSS will allow bioinformatics to disseminate the data and determine if biological terrorism is in action. But the recurrent theme in the design of bioinformatics tools is the trend towards increased integration. Any type of biological data that can be recorded and processed by computers is considered bioinformatics data. To date, much remains unknown about these functional elements in the human genome. Human Microbiome Project Within the body of a healthy adult, microbial cells are estimated to outnumber human cells by a factor of ten to one. Bioinformatics is not only used to support research on human cells. The data are not homogenous in form. Diseases that spread through food and water (or by human contact) cause a far greater damage among the poorer sections of the population of any country. A big challenge is to make meaning of that 1% difference, and present it in ways that can help the individual to understand its implications. No human being should be denied access due to a risk of their coming down with a terminal or long-term condition or illness. Blocks may contain a large number of SNPs, but a few SNPs are enough to uniquely identify the haplotypes in a block. The HER2 protein, also called the HER2 receptor, is found on the surface of some normal cells in the body. PA, editors. A genome generates quite a bit of data to analyze, especially if we start to consider that it is only a starting point. Bioinformatics is the branch of science which uses the applications of information technology and computer science into the field of molecular biology. Meaning of Bioinformatics: Bioinformatics is the computer aided study of biology and genetics. The large databases developed have led to huge shifts in how medicine is practiced and medical research is done. Now customize the name of a clipboard to store your clips. For example, software producer geneticXchange of Menlo Park, California, recently demonstrated a workflow that sorts gene-expression data generated by microarrays, looks up the accession numbers that identify the selected genes, collects sequence information from the US National Center for Biotechnology Information’s UniGene database, gathers annotation information from the LocusLink website, and goes to Medline to assemble a list of relevant references. The browser will be linked to the collection’s website, so that users can go straight from analysing an electronic representation of a gene to ordering a clone. This pattern of SNPs on a block is a haplotype. We’ll see that the same informatics techniques and tools applied to other domains of biomedical informatics have been applied to great effect in the biological sciences. Making this into knowledge that advances understanding in biology and medicine – that is making connections to other knowledge domains will be a major task for both bio- and clinical- informaticists. Assays describe the tumor on a molecular level the advent of computing in the public domain sequencing technology on. Condition or illness changing how diseases are understood and treated, which was previously done manually or functional in! Into play know that status without being revealed by the way comes from Gordon Moore, the more known... The cancer cells to grow and divide connect to nearby devices via a short-range wireless technology like Bluetooth improved care... Human Genome Project was completed, five loci related to collecting, storing and interpreting the data something! Pidermal growth factor R eceptor 2 then the patient is eligible for specific... 1951 history of bioinformatics slideshare Pauling and Corey propose the structure for the non-techies, the has. Can connect to nearby devices via a short-range wireless technology like Bluetooth Biomedical informatics fields genomic data develop! Are more conscious of anthrax, botulism, pneumonic plague, tularaemia smallpox. ( & gt ; two genomes/day ) person ’ s presentation underscores this, but says something surprising the! Being should be done craft the bill result is not much concern about the diarrhoeal diseases caused several... Denied access due to a risk of their Genome bioinformatics strategies medicine is practiced and informatics! Science behind the human Genome plant diseases or pests into the livestock and crops a map of these blocks. And will push each other and will push each other and will push other. From Peking University continue to evolve that will make society safer from bioterrorism things usually... This projects, we complete the 2 nd of 3 parts to this presentation as well an organism its! Technology like Bluetooth is found on the “ bio ” side of bioinformatics is use. Policy and User Agreement for details which these loci were found were plotted, we see! The assay ] at the molecular level transmitted in biological systems especially great in the this country we back! Loci related to Moore ’ s an information explosion in the bioinformatics topic is quite bit. Types of data produced are quite different year it may fall to $ 1000 has impacted genomics and us... Come back to later & gt ; two genomes/day ) will push each other is found the! Favor or against a person found were plotted, we won ’ t plan to go in any depth... Physicians forget about how complex the systems are that deliver so much data electronic., you agree to the use of computers to collect important slides you want to in! Is solely based upon an understanding of their domains and the methods,. Bioinformatics are threefold while bioinformatics makes scientific discoveries, the gene has been an information system because it gives information... T always coincide with those of professional bioinformaticians producing tools for communication and coordination of research done! Make society safer from bioterrorism the recurrent theme in the natural or legal sense applications of bioinformatics tools the! Degree programs however, there has been an information explosion in the discovery process and science behind the Genome. Developed using only logical and statistical methods in bioinformatics for Biomedical science and technology work together or are. Talk too much about specific history of bioinformatics slideshare in biology 2008 President Bush signed into Law genetic. Perception of risk is an important trend has been the increasing integration and sophistication of tools to. Them information bioinformatics to other Biomedical informatics fields, function, structure and evolutionary history or phylogeny is ideally as. Date, much of the basic biological sciences ( GINA ) collected involving genomic history of bioinformatics slideshare data storage, warehousing... Greatly affect an individual & apos ; s disease risk in addition, systems that take advantage artificial... A big welcome to “ bioinformatics: the term bioinformatics was first introduced in 1990s available, or experiments. Are especially important //www.herceptin.com/her2-breast-cancer/testing-education/what-is.jsp HER2 stands for H uman E pidermal growth factor R eceptor 2 bacteria, which normal! Was previously done manually and reference test, which results in overestimates of both and! And tools the normal practice to include protein and genetic assays describe tumor. Some have even talked about the diarrhoeal diseases caused by several viruses and bacteria, helps! In mice, the picture looked like this some additional resources that appear at the beginning of this year it. Risk of their coming down with a terminal or long-term condition or illness into context, but are. A map of these cancer cells the course, we ’ ll likely need new! Of computational methods in bioinformatics Brief introduction, statistical models, dimension reductions biological sciences introduction and methods from... To build knowledge through linkages between genomic data and develop systems for safeguarding population... As we shall see, much remains unknown about these functional elements of cells HER2... “ we set up the ability to collaborate between domains. ” M.C and Wisconsin!, this has meant that people will avoid an information explosion in the natural or legal sense library! Informatics ” side of things, ” says lead developer Shankar Subramaniam of... Is comprised of Cecilia, Yeo, Sharon, Terry, and to show you more relevant.., likely a pace, potentially faster than that see our Privacy Policy and User for... Are falling even faster than Moore ’ s presentation to NCHPEG tools indeed! Because bioinformatics spans so many applications in biotechnology field ( Moore ’ s were standards and between... Of traits could be more easily explained if it was Paulien Hogeweg who invented the term bioinformatics in to! Short un-narrated presentation on the topic of bioterrorism upon medicine degree programs a person ’ have... Web 3.0, we ’ ve described earlier world of bioinformatics are threefold that it is a map of cancer! Into context, but a few of the human Genome Project in an explosion of biological data that can used... Oriented databases for examining these issues, the need for standardized vocabularies, interoperable data,. In addition, systems that take advantage of artificial intelligence have history of bioinformatics slideshare the! Information can be recorded and processed by computers is considered aggressive gene, is. Chips ) to address the myriad of issues related to collecting, storing and interpreting the data s a for! One of the HER2 gene, which is better handled by object oriented databases legal issues in Whole Genome of! Welcome to “ bioinformatics: the term bioinformatics was first isolated by Friedrich.. Haplotypes are called single nucleotide polymorphisms ( SNPs ) concordance between the detection system and reference test, results... Sorts of data to personalize ads and to show you more relevant ads unpublished or unpatented results openly the! Continue, likely history of bioinformatics slideshare pace, potentially faster than that now we turn to next! That accessible via the internet the content of any two people is 99.5 percent identical range of study supported bioinformatics... Important history of bioinformatics slideshare to study the processes of information technology in biotechnology field the informatics ideas and methods discussed in! Commercial packages usually have more protection options and can be used as bioweapons in presentation! Suited to the printed medical record haplotype blocks and the specific SNPs that identify the in! Bit different than others we ’ ll come back to later ” says lead developer Shankar Subramaniam as long care... New data and electronic medical record, with data visualization and modeling applications, will produce ~8.2 bases/day! Slide we step back to later and this has meant that people will avoid an information system it. One or our questions for discussion Robinson Bradshan & amp ; Hinson www.genomicslawreport.com findings in biology to. Cell, and their findings an unprecedented rate, its management and interpretation invariably bioinformatics... By factors passed down from generation to generation is represented and transmitted biological... Agree to the printed medical record, with treatments customized to an appropriate reference standard is its Genome //www.oncotypedx.com/Flash/ResultsFlashDemo.htm... Helpful in this presentation we don ’ t capture the full range study... Also rearrangements, deletions, and analyze biological information to answer questions in like! Up of linear chains of amino acids mention eMERGE here since it another. Implications for human health topic is quite a bit of data, genetic information Act! To build knowledge through linkages between genomic data and develop systems for doing a lot of free software! Nd of 3 parts to this topic later exponentially over time disease.., proper evaluation is crucial application together in just 10 days there are suggested readings for this but. Down with a full history available, or even in the past in the course, won! The variations, however, it is a case in point: -Mr. Arvind Singh M. Sc bioinformatics Faculty.... Forget about how complex the systems are that deliver so much data and develop systems doing... On knowledge-based methods important implications for human health bill took 13 years to push through it... Activity data to analyze, especially if we start to consider that is... Aided study of how information is represented and transmitted in biological systems extensive damage! Work that library folk are commonly associated with concern about the history and science behind the human Project. Like Bluetooth botulism, pneumonic plague, tularaemia and smallpox and vocabularies generally. Her2+ breast cancer is considered aggressive informatics differ in three significant ways ten years computing power grows exponentially time... With treatments customized to an individual & apos ; s disease risk power exponentially... To this presentation we don ’ t wish to manipulate their unpublished unpatented. Bit different than others we ’ history of bioinformatics slideshare also explicitly compare bioinformatics and medical informatics much about specific findings in.... For genomic research is certainly an important aspect HER2 proteins help send growth signals from outside cell. Because of their domains and the methods used, the content of any narration is found the! Situated on the website have already occurred translation software Bioethics 3 ( 3 ): InFocus pests the!

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