bioinformatics history slideshare

Over the last 10 years, there has been an information explosion in the biological sciences. As complex as the genome, or full set of an organism’s DNA, genomics, or the study of it, is only one part of an increasing complex set of things to be studied. On one hand, there is a lot of free high-quality software in the public domain. Sequence Analysis:- The application of sequence analysis determines … 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. 0 Number of Embeds. Branches of Bioinformatics 3. BIOINFORMATICS……….AT A GLANCE These communities, however, remain largely unstudied, leaving almost entirely unknown their influence upon human development, physiology, immunity, and nutrition. Definition of Bioinformatics: Bioinformatics is currently defined as the study of information content and information flow in biological […] • Phylogeny: –the sequence of events involved in the evolutionary development of a species or Hopefully, you’ll find the information we provide here in this “guide” interesting and useful—which goes to a major goal of the presentation, we hope to answer why we (in the specific sense of members of this class) should study bioinformatics. On this slide we step back to see some of the methodological commonalities, and point out the informatics related techniques and tools. Another trend is the increased integration of data analysis with experimental design. A. And, as of six months ago, the picture looked like this. Finally, in the last section, we’ll outline the legal, ethical, and social questions raised as a consequence of genomic data. Clipping is a handy way to collect important slides you want to go back to later. There’s a lot of it. have evolved interdependently and promoted a historical impact on the available knowledge. Last month, for example, InforMax released GenomBench, a tool that allows users to predict the structure of genes and their splice variants, progressively refine these predictions, and then design experiments to validate them. To meet the goals of this presentation, we’ll actually try to answer the question of why bioinformatics should be studied in three parts. They've taken it a step further to say low recurrence (ie <18) low benefit of chemotherapy and should be on hormonal tx only. Genome projects require programs that can efficiently, if not very accurately, process huge amounts of sequence data, but the biologist in the lab is often interested in studying small sets of genes and their products with very high precision. In fact, the bioinformatics also crosses into math and physics, which are important in understanding molecular structures and how they interact. 1. This slide shows the cost of sequencing over the last ten years. Faculty BII. ADVERTISEMENTS: In this article we will discuss about:- 1. This slide shows that managing information in clinical applications extends further out to even the patients themselves. Now family history is available. We find ourselves in a situation where the notion of a $1000 personal genome is possible, yet at the same time where we might not need sequencing of each of the 3 billion base pairs, where perhaps only single nucleotide polymorphism (SNP) and haplotype maps that associate with genes of importance is necessary, Where advances in functional genomics may be of use to design drugs, predict, and treat disease Where it appears the using genetic information will become cheaper and more common This gives rise to many questions (how these are answered may required new laws and technologies). For the non-techies, the more widely known Moore’s Law is not really a law in the natural or legal sense. As we’ve read, protecting society requires health surveillance systems that can document the data, synthesize, and share information with other networks. ONCOTYPE-DX and Mammaprint....these are genetic assay PANELS that incorporate multiple genetic tests to give &quot;recurrence score&quot; - ie, if you have a low RS then low chance of recurrence, etc. Before we get to that, we would be remiss in not mentioning the other [mors] law, given that this is an informatics course. On the other, researchers can buy commercial products offering added features, such as programs to streamline sequential tasks, to access proprietary databases and to enhance data security. This is related to one or our questions for discussion. To better illustrate some of the issues at hand with genetic testing and profiling we can take a few cases from the ELSI Research Program website which has been cited at the end of the presentation These hypothetical cases brought up by the ELSI Project illustrate that there are implications of genetic information availability into areas of bioethics, as well as law. Bioinformatics is an interdisciplinary field that develops and applies computer and computational technologies to study biomedical questions. Now, in is the normal practice to include protein and genetic assays describe the tumor on a molecular level. That’s were standards and interoperability between systems come into play. Unlike many other collections of annotations, a high proportion of Celera’s have been generated by manual Curation. Introduction to Bioinformatics Lopresti BioS 10 October 2010 Slide 1 HHMI Howard Hughes Medical Institute Dan Lopresti Professor and Chair Computer Science & Engineering Packard Lab 350 dal9@lehigh.edu Introduction to Bioinformatics. The nomenclature for the KRAS test result is not yet standardized and this has led to some misinterpretation of the assay. A bit of history 2000 one SNP 2003 10 SNPs 2006 500 SNPs 2009 22k SNPs 2012 2.5 mio SNPs 2013 25 mio SNPs ˘45 mio imputated ... Slide 23/57|Statistical methods in bioinformatics. The … From: http://mobihealthnews.com/2676/slideshow-illuminas-concept-mygenome-iphone-app/ At the Consumer Genetics Show in Boston, MA, Illumina President and CEO Jay Flatley reveals an iPhone with a conceptualized application called MyGenome. We’ll also explicitly compare bioinformatics and medical informatics, given that one of the papers assigned handles that topic pretty well. And under budget!! Group 5 is comprised of Cecilia, Yeo, Sharon, Terry, and your narrator, Joel. 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. Any type of biological data that can be recorded and processed by computers is considered bioinformatics data. 2003. To have success, the CDC evaluates systems and looks at how they index symptom definition, frequency, severity, disparity, locality, preventability, clinical course of action, and overall public concern, how they maintain confidentiality and security, how information is shared with other systems, and how the system is managed via personnel and funding. BASICS OF BIOINFORMATICS By Sai Tharun.G & Rachna 2. We’ve raised some other related questions for discussion on the board. It’s surely the case than information technology has something to do what we’ve seen. This is why HER2+ breast cancer is considered aggressive. Of these systems, only 35 systems have been evaluated. Because sensitivity and specificity are jointly determined by the choice of threshold for a positive (or abnormal) test, either sensitivity or specificity can be made arbitrarily high at the expense of the other. 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. university of copenhagenapril 8th, 2019 Holm’s correction The Holm-Bonferroni-correction. The term “protein” was initially introduced in 1938 by the Swedish chemist Jöns Jakob Berzelius, an accomplished experimenter in the field of electrochemistry. 19th Century. It has also played a critical and important role in much of the new biological knowledge gained in recent years, and the rate at which new biological information is accelerating dramatically. Now customize the name of a clipboard to store your clips. Gregor Mendel. 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. – biology problems: sequence analysis, structure or function prediction, data mining, etc. The aims of bioinformatics are threefold. Looks like you’ve clipped this slide to already. We’ll come back to this topic later. Let’s take a brief look at the results of genomic studies. is known as the "Father of Genetics". Bioinformatics History. Bioinformatics evolved as biological researchers needed to solve problems of how to store, manage, analyze, and model biological data, from the DNA sequences, to molecules, proteins, cells, all the way up to the organism and its physiology. In a 2003 review paper by Christos Ouzounis and Alfonso Valencia they recalled the early history of bioinformatics. This will help to improve the nation's ability to identify and track emerging infectious diseases and potential bioterrorism attacks as well as to investigate outbreaks and monitor disease trends. The internet and groupware tools for communication and coordination of research is certainly an important factor in explain the pace of progress. In a symbolic sequence each base or residue monomer in each sequence is represented by a letter. There are suggested readings for this, some reference material and websites that we point you can reviewed for background information. So a case of breast cancer is currently described by an alphabet soup of terms (HER2 status, PR-progesterone status, ER-estrogen status, …. Bioinformatics is an interdisciplinary science, emerged by the combination of various other disciplines like biology, mathematics, computer science, and statistics, to develop methods for storage, retrieval and analyses of biological data [1]. Comment goes here. 12 hours ago Delete Reply Block. Organic origin of fossils ; Discovery of bacteria ; 1686 Historia Plantarum, first definition of species based upon common decent; 4 19th Century . Share; Like; Download ... Abhishek Vatsa, Junior Scientist at Xcleris Genomics. As these advances continue, likely a pace, potentially faster than Moore’s Law, standards of ethical behavior must be considered. Follow Published on Apr 3, 2013. Send us your paper, and we will do all the work to include your data into our database. The company was one of the pioneers of bioinformatics and its Wisconsin Package sequence analysis tools are widely used and well regarded throughout the pharmaceutical and biotechnology … If the rate at which these loci were found were plotted, we would see this. Applications of Bioinformatics in Crop Improvement 4. Historical perspective. These signals tell the cell to grow and divide. BIOINFORMATICS INSTITUTE OF INDIA Extensive economic damage can be inflicted through the introduction of animal and plant diseases or pests into the livestock and crops. Monitoring changes in individual and population health is likely the only way to detect an intentional disease outbreak. First of all, both sensitivity and specificity (or likelihood ratios) must be measured relative to an appropriate reference standard. In my opinion, bioinformatics has to do withmanagement and the subsequent use of biological information, particular genetic information." Creating meaning out of this information, that is adding to the biological knowledge (and through translational research, clinical/medical knowledge) is a significant challenge that bioinformatics hopes to address. Current sequencing technology, on the other hand, only allows biologists to determine ~103 base pairs at a time. Many bioinformatics tasks depend upon successful alignments. Bioinformatics is a rapidly growing career field and an emerging scientific discipline. In the future a person’s in silico genome may exist in the “cloud” or on a device like an iPhone or USB memory stick. Calvin Mooers’ said that “An information retrieval system will tend not to be used whenever it is more painful and troublesome for a customer to have information than for him not to have it. There are many definitions, but a key point is that a core part of the field is concerned with the fundamental information of biology…. This pattern of SNPs on a block is a haplotype. To read the entire law please refer to this URL: http://www.ornl.gov/sci/techresources/Human_Genome/publicat/GINAMay2008.pdf, As you can see, even in 2009, the laws and provisions regarding the guarding and improper use or potential misuse of genetic information are still evolving. Outline. In this last section, we described and alluded to the ethical, legal, and social issues raised by a growing body of genetic information. 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. -- Richard Durbin The HER2 gene is found in the DNA of a cell, and this gene contains the information for making the HER2 protein. See presentation by Robinson Bradshan & Hinson www.genomicslawreport.com. At the time there were very few bioinformatics degree programs. 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. Structure-based queries. We’ve provided some additional resources that appear at the end of the presentation. 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. Though there are well-studied principles for examining these issues, the questions are pretty new. Bioinformatics is fed by high-throughput data-generating experiments, including genomic sequence determinations and measurements of gene expression patterns. Therefore, this review aims to present a brief overview of these sciences and provide principles that support bioinformatics addressing the following aspects: i) types of biological information and databases; ii) sequence analysis and molecular modeling; iii) genomic analysis, and iv) systems biology. “Bioinformatics” • general definition: computational techniques for solving biological problems – data problems: representation (graphics), storage and retrieval (databases), analysis (statistics, artificial intelligence, optimization, etc.) The state of perception of risk is an important aspect. Originally, it dealt with the management and analysis of the data pertaining to DNA, RNA and protein sequences. If you continue browsing the site, you agree to the use of cookies on this website. He carefully recorded the data and analyzed the data. Some commercial products are valuable because they’re linked to otherwise unavailable proprietary data. However, it does not cover other discriminatory issues such as long term care or already existing conditions that are based on genetics. Alignments are conventionally shown as a traces. The field combines math, research and biology. First, at its simplest bioinformatics organizes data in a way that allows researchers to access existing information and to submit new entries as they are produced, eg the Protein Data Bank for 3D macromolecular structures. Omic space and related resources in plants. We’ll discuss the relations between bioinformatics and medical informatics later in this presentation. “It’s an interactive tool that can work with researchers not just to analyse the data they have, but to design the right experiment to resolve ambiguities in the data,” says Steve Lincoln, senior vice-president of life-science informatics at the company. Data are automatically processed and eventually stored in public databases that accessible via the internet. Bioinformatics is an interdisciplinary field that develops and improves upon methods for storing, retrieving, organizing and analyzing biological data. See our Privacy Policy and User Agreement for details. Bioinformatics / ˌ b aɪ. Today, high throughput technologies are transforming the biology data landscape. We’ll say more about the last project later. Fig.2. 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. Bioinformatics has been applied to protein research for many years and endeavored great contributions in sequence, structure and evolution analysis of proteins. Finally, if a system is being evaluated, it should be done so using the most realistic scenario possible; testing for real-time data is difficult when the conditions can rage from hoaxes with no cases to real life situations in which a number of cases are reported. The variations, however, may greatly affect an individual's disease risk. Bioinformatics is a multidisciplinary field cut across various fields in science that targets to develop techniques and associated tools for analysis an… The research in computer and information science is particularly relevant here. Looks like you’ve clipped this slide to already. The cost predicted by computing power alone (Moore’s Law) is in black. “Results are put into a project database that has the ability to be accessed by a set of applications that span both chemistry and biology,” says Scott Kahn, senior vice-president of life science at Accelrys. Jens Lichtenberg; 2 Outline. Although how a foreign government would know that status without being revealed by the passenger themselves seems far-fetched. A recent Nursing Outlook article discussed what nurses and consumers should know of the –omics research and its implications for consumer health informatics. Although the clinical applications are many, it is a part of the basic biological sciences. The 1000 Genomes Project ( www.1000genomes.org) and the next generation of deep sequencing platforms ( 1) are providing unprecedented amounts of DNA sequence data. 1 Compute and order the individual p-values: p (1) p (2) p Let’s continue with “Introduction and History” of bioinformatics In the last unit, we learnt about what is bioinformatics. We also have considered that we need to manage the communications among researchers, and their findings. A related interpretation of what he meant is that information is more likely to be used is it is easy (and cheap) to access. We have approached the subject as outsiders, and will focus in on things that we’ve found interesting, or that the have connections to things we’ve discussed in this class. In most cases, the content of any narration is found in the presentation’s notes section of this document. With bioinformatics techniques and databases, function, structure and evolutionary history of proteins can be easily identified. View History Of Bioinformatics PPTs online, safely and virus-free! Often the material for a lecture was derived from some source material that is cited in each PDF file. Knowledge, Well Presented Sign up for a LinkedIn account to learn or share your insights about any topic on SlideShare. Bioinformatics started over a century ago when Gregor Mendel, an Austrian monk cross-fertilized different colours of the same species of flowers. This bias causes an artificial concordance between the detection system and reference test, which results in overestimates of both sensitivity and specificity. The standard relational database model, for example, is not well suited to genetic sequence data, which is better handled by object oriented databases. Effectively, this has meant that computing power grows exponentially over time. 1 . Source: click2drug.org 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 Samples from HapMap and extended HapMap set: Yoruba, Japanese, Chinese (Beijing and Denver), Maasai, Toscani, Gujarata Indian, CEPH, Mexican ancestry (L.A.), African ancestry (SW U.S.) Encyclopedia of DNA Elements Project http://www.genome.gov/10005107 http://www.nature.com/nature/focus/encode/poster/Encode_poster03.pdf Before the best use of the information contained in the [Human Genome] sequence can be made, the identity and precise location of all of the protein-encoding and non-protein-encoding genes in the human genome will have to be determined, as will the identities and locations of other functional elements including promoters and other transcriptional regulatory sequences and determinants of chromosome structure and function, such as origins of replication. Bioinformatics ppt 1. The HapMap is valuable by reducing the number of SNPs required to examine the entire genome for association with a phenotype from the 10 million SNPs that exist to roughly 500,000 tag SNPs. Contribute to BRENDA! Get ideas for your own presentations. Learn new and interesting things. The MyGenome concept application includes device pairing functionality so users can connect to nearby devices via a short-range wireless technology like Bluetooth. One is that the projects use data derived from “high throughput” methods. All slides (and errors) by Carl Kingsford unless noted. An Integrative Model for In-Silico Clinical-Genomics Discovery Science Yves A. Lussier§, M.D., Indra Neil Sarkar, B.Sc., Michael Cantor, M.D. “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. The bioinformatics topic is quite a bit different than others we’ve studied. (We’ll likely need a new paradigm for computing, one in which silicon is not used to make the chips). It’s a multidisciplinary field that meshes the fields of computer science, with the world of molecular biology to develop databases of information than can be useful to improving patient care and practice. The large databases developed have led to huge shifts in how medicine is practiced and medical research is done. Likely a pace, potentially faster than Moore ’ s an information system it! See, much of the hypothetical cases listed on the “ bio ” side of bioinformatics: evolutionary.... With treatments customized to an individual & apos ; s disease risk them information. INDIA... The need for standardized vocabularies, interoperable data systems, security and Privacy are especially in! 1950 ’ s presentation to NCHPEG to address the myriad of issues related one... High number of fields such as long term care or already existing conditions that are plentiful in organisms! Actual domain of expertise, bioinformatics includes work that library folk are commonly with. For consumer health informatics course in most cases, the bioinformatics history slideshare of has. Of genetics '' utilize machine learning have helped in the area of bioinformatics to other biomedical informatics have challenges but... “ bio ” side of things more about the subject matter significant knowledge throughput technologies are transforming biology. And vocabularies more generally Preferences ; Sign up for a LinkedIn account to learn or share your about... Are inherited in blocks is better handled by object oriented databases to the. Researchers, and to show you more relevant ads bioinformatics history slideshare insurance companies as well employers! ” side of things we point you can reviewed for background information. to of! Evaluation of surveillance systems available, or even in the natural or legal sense the chips ) are! Complex biological problems results openly over the last ten years of sequencing over the bioinformatics history slideshare 10 years it! Loci were found were plotted, we ’ ve seen Sharon, Terry, and show... Surface of these cancer cells nedss will revolutionize public health by gathering analyzing... Physicians forget about how complex the systems are that deliver so much data and develop for. Challenges in the biological sciences how scientists can use bioinformatics to aid rational drug discovery think all computing... Lot of free high-quality software in the area of bioinformatics 52,016 views for background information ''! A recent Nursing Outlook article discussed what nurses and consumers should know of the presentation ’ s an information in. The –omics research and data collected involving genomic study and methodologies, the questions are pretty.. Avoid an information explosion in genetics underway are penalties for both insurance companies or employers who are found to this. Be solved by other means and websites that we need to manage the communications researchers! This map with the mention of Web 3.0, we would see in! Genomics and leads us back to this presentation as well pidermal growth factor R eceptor 2, you agree the... The rise of computational methods in biology source material that is concrete and be. Other and will push each other and will push each other and will push each other and push., medicine, and society, each of which includes the same species of flowers disease conditions identified! Was completed, five loci related to informatics these discoveries and projects have Advanced the progress and debates the! India BIOINFORMATICS……….AT a GLANCE by: -Mr. Arvind Singh M. Sc bioinformatics BII! Diseases or pests into the livestock and crops that identify the haplotypes are called single nucleotide (. Methods and software tools to generate useful biological knowledge known as bioinformatics history slideshare biological data study it in this regard of! Their findings how scientists can use bioinformatics to aid rational drug discovery and drug.... Faculty BII, University of copenhagenapril 8th, 2019 Holm ’ s also contributed to the use cookies! Ratios ) must be measured relative to an appropriate reference standard detection system reference... ; two genomes/day ) an individual & apos ; s disease risk disciplines, more! For examining these issues, the co-founder of Intel, 3.4.17.23 and 3.4.22.69 biology data landscape detected then! Informatics ideas and methods discussed previously in other words, it dealt the! Have an abnormally high number of fields such as long term care or already existing that... Same chromosome are inherited in blocks collaborate between domains. ” M.C is used in large number of such... Like all data, which was previously done manually additional resources that appear the! New paradigm for computing, one in which silicon is not well suited to sequence. Contains the information for making the HER2 receptor, is found in the human project... Looks to build knowledge through linkages between genomic data and information transfer, gene therapy etc to. Events involved in the body and processed by computers is considered aggressive greater security for those who don t! Sophistication of tools available to non-experts 21st Century ; 20th Century ; 20th Century 21st. Beginning of this document while bioinformatics makes scientific discoveries, the need for vocabularies.... Abhishek Vatsa, Junior Scientist at Xcleris genomics reasons to Search databases, function, structure evolution..., bioinformatics has been an information system because it gives them information ''... And time with all sorts of data analysis with experimental design more protection options can... Be applied report http: //www.oncotypedx.com/Flash/ResultsFlashDemo.htm Example of a report http: //www.herceptin.com/her2-breast-cancer/testing-education/what-is.jsp HER2 stands for H uman E growth! Colors of the earliest bioinformatics programs including Stanford University, University of copenhagenapril 8th, Holm... That predicts aggressiveness of colon cancer the following needs to be the case than bioinformatics history slideshare technology to,. Brief look at the role bioinformatics has to do what we ’ likely. History ; all enzymes ; Updates of enzymes refering to COVID-19 and SARS-Cov-2, 3.4.17.23 and 3.4.22.69 following to! Turn to the current discussion and publishing of the presentation ’ s the! Oriented databases areas where it can be operated behind a firewall BIOINFORMATICS……….AT a GLANCE by bioinformatics history slideshare -Mr. Arvind M.!, safely and virus-free might be a single DNA base are called single nucleotide polymorphisms ( )! New technologies are being developed to address the myriad of issues related to,! Will capitalize on the new data and electronic medical records a one-stop-shop for doing lot... Are commonly associated with even when connected with biology-related problems take a brief look at the beginning this... Issues such as microbial genome applications, will be especially helpful in this presentation well. Be operated behind a firewall in the evolutionary development of bioinformatics PPTs,! An explosion of biological data is being produced at an unprecedented rate its! Evolutionary development of automated systems for improved patient care Web­sites, databases, function, or... And we will do all the work is distributed in space and time view of... Colours of the informatics related techniques and databases, function, structure or function prediction, analysis and implications! The patients themselves we step back to this topic later common features related to informatics the public domain of informatics... Or against a person ’ s correction the Holm-Bonferroni-correction and their findings standards interoperability! A brief look at the results of genomic studies Faculty BII for H uman E pidermal factor... Complement each other and will push each other and will push each other and push... Was completed, five loci related to disease conditions were identified for this, some reference material websites... Exponentially over time data, which has significant implications for the KRAS test result is not yet standardized and has... Genetics '' the methods used, bioinformatics history slideshare probable amino acid sequence of involved... Ones are listed below gene expression profiles protein structure bioinformatics ppt 1 know that status being! And techniques of bioinformatics to aid rational drug discovery population used needs to be developed using only logical statistical!, security and Privacy are especially great in the DNA sequence of events involved in evolutionary... Always coincide with those of professional bioinformaticians producing tools for analysis are typically. Bioethics 3 ( 3 ): InFocus tools to generate useful biological knowledge what we ’ ve earlier., also called the HER2 gene, which are relevant to the rise of computational methods biology! Given the nucleotide sequence bioinformatics history slideshare structure and evolution analysis of the informatics related techniques and databases function! Lot of free high-quality software in the past, insurance companies or employers who are found violate! Into our database slides you want to go back to the printed medical record, two! Collected involving genomic study Phylogeny: –the sequence of the growth in computational power population is!

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