Overview of Computational Biology Concentration in Biological Sciences Major Cornell
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Biophysics, Structural and Computational Biology (BSCB) Faculty Administers the Ph.D
UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY Graduate Studies in BIOPHYSICS, STRUCTURAL AND COMPUTATIONAL BIOLOGY Student Handbook August 2019 David Mathews, Program Director Joseph Wedekind, Education Committee Chair Melissa Vera, Graduate Studies Coordinator PREFACE The Biophysics, Structural and Computational Biology (BSCB) Faculty administers the Ph.D. degree program in Biophysics for the Department of Biochemistry and Biophysics. This handbook is intended to outline the major features and policies of the program. The general features of the graduate experience at the University of Rochester are summarized in the Graduate Bulletin, which is updated every two years. Students and advisors will need to consult both sources, though it is our intent to provide the salient features here. Policy, of course, continues to evolve in response to the changing needs of the graduate programs and the students in them. Thus, it is wise to verify any crucial decisions with the Graduate Studies Coordinator. i TABLE OF CONTENTS Page I. DEFINITIONS 1 II. BIOPHYSICS CURRICULUM 2 A. Courses 2 1. Core Curriculum 2. Elective Courses 3 B. Suggested Progress Toward the Ph.D. in Biophysics 4 C. Other Educational Opportunities 4 1. Departmental Seminars 4 2. BSCB Program Retreat 5 3. Bioinformatics Cluster 5 D. Exemptions from Course Requirements 5 E. Minimum Course Performance 5 F. M.D./Ph.D. Students 6 III. ADDITIONAL DETAILS OF PROCEDURES AND REQUIREMENTS 7 A. Faculty Advisors for Entering Students 7 B. Student Laboratory Rotations 7 C. Radiation Certificate 8 D. Student Research Seminar 8 E. First Year Preliminary Examination and Evaluation 9 F. Teaching Assistantship 12 G. -
Chapter 14: Functional Genomics Learning Objectives
Chapter 14: Functional Genomics Learning objectives Upon reading this chapter, you should be able to: ■ define functional genomics; ■ describe the key features of eight model organisms; ■ explain techniques of forward and reverse genetics; ■ discuss the relation between the central dogma and functional genomics; and ■ describe proteomics-based approaches to functional genomics. Outline : Functional genomics Introduction Relation between genotype and phenotype Eight model organisms E. coli; yeast; Arabidopsis; C. elegans; Drosophila; zebrafish; mouse; human Functional genomics using reverse and forward genetics Reverse genetics: mouse knockouts; yeast; gene trapping; insertional mutatgenesis; gene silencing Forward genetics: chemical mutagenesis Functional genomics and the central dogma Approaches to function; Functional genomics and DNA; …and RNA; …and protein Proteomic approaches to functional genomics CASP; protein-protein interactions; protein networks Perspective Albert Blakeslee (1874–1954) studied the effect of altered chromosome numbers on the phenotype of the jimson-weed Datura stramonium, a flowering plant. Introduction: Functional genomics Functional genomics is the genome-wide study of the function of DNA (including both genes and non-genic regions), as well as RNA and proteins encoded by DNA. The term “functional genomics” may apply to • the genome, transcriptome, or proteome • the use of high-throughput screens • the perturbation of gene function • the complex relationship of genotype and phenotype Functional genomics approaches to high throughput analyses Relationship between genotype and phenotype The genotype of an individual consists of the DNA that comprises the organism. The phenotype is the outward manifestation in terms of properties such as size, shape, movement, and physiology. We can consider the phenotype of a cell (e.g., a precursor cell may develop into a brain cell or liver cell) or the phenotype of an organism (e.g., a person may have a disease phenotype such as sickle‐cell anemia). -
A Sample Workload for Bioinformatics and Computational Biology for Optimizing Next-Generation High-Performance Computer Systems
BioSPLASH: A sample workload for bioinformatics and computational biology for optimizing next-generation high-performance computer systems David A. Bader∗ Vipin Sachdeva Department of Electrical and Computer Engineering University of New Mexico, Albuquerque, NM 87131 Virat Agarwal Gaurav Goel Abhishek N. Singh Indian Institute of Technology, New Delhi May 1, 2005 Abstract BioSPLASH is a suite of representative applications that we have assembled from the com- putational biology community, where the codes are carefully selected to span a breadth of algorithms and performance characteristics. The main results of this paper are the assembly of a scalable bioinformatics workload with impact to the DARPA High Produc- tivity Computing Systems Program to develop revolutionarily-new economically- viable high-performance computing systems,andanalyses of the performance of these codes for computationally demanding instances using the cycle-accurate IBM MAMBO simulator and real performance monitoring on an Apple G5 system. Hence, our work is novel in that it is one of the first efforts to incorporate life science application per- formance for optimizing high-end computer system architectures. 1 Algorithms in Computational Biology In the 50 years since the discovery of the structure of DNA, and with new techniques for sequencing the entire genome of organisms, biology is rapidly moving towards a data-intensive, computational science. Biologists are in search of biomolecular sequence data, for its comparison with other genomes, and because its structure determines function and leads to the understanding of bio- chemical pathways, disease prevention and cure, and the mechanisms of life itself. Computational biology has been aided by recent advances in both technology and algorithms; for instance, the ability to sequence short contiguous strings of DNA and from these reconstruct the whole genome (e.g., see [34, 2, 33]) and the proliferation of high-speed micro array, gene, and protein chips (e.g., see [27]) for the study of gene expression and function determination. -
A Call for Public Archives for Biological Image Data Public Data Archives Are the Backbone of Modern Biological Research
comment A call for public archives for biological image data Public data archives are the backbone of modern biological research. Biomolecular archives are well established, but bioimaging resources lag behind them. The technology required for imaging archives is now available, thus enabling the creation of the frst public bioimage datasets. We present the rationale for the construction of bioimage archives and their associated databases to underpin the next revolution in bioinformatics discovery. Jan Ellenberg, Jason R. Swedlow, Mary Barlow, Charles E. Cook, Ugis Sarkans, Ardan Patwardhan, Alvis Brazma and Ewan Birney ince the mid-1970s it has been possible image data to encourage both reuse and in automation and throughput allow this to analyze the molecular composition extraction of knowledge. to be done in a systematic manner. We Sof living organisms, from the individual Despite the long history of biological expect that, for example, super-resolution units (nucleotides, amino acids, and imaging, the tools and resources for imaging will be applied across biological metabolites) to the macromolecules they collecting, managing, and sharing image and biomedical imaging; examples in are part of (DNA, RNA, and proteins), data are immature compared with those multidimensional imaging8 and high- as well as the interactions among available for sequence and 3D structure content screening9 have recently been these components1–3. The cost of such data. In the following sections we reported. It is very likely that imaging data measurements has decreased remarkably outline the current barriers to progress, volume and complexity will continue to over time, and technological development the technological developments that grow. Second, the emergence of powerful has widened their scope from investigations could provide solutions, and how those computer-based approaches for image of gene and transcript sequences (genomics/ infrastructure solutions can meet the interpretation, quantification, and modeling transcriptomics) to proteins (proteomics) outlined need. -
3 on the Nature of Biological Data
ON THE NATURE OF BIOLOGICAL DATA 35 3 On the Nature of Biological Data Twenty-first century biology will be a data-intensive enterprise. Laboratory data will continue to underpin biology’s tradition of being empirical and descriptive. In addition, they will provide confirming or disconfirming evidence for the various theories and models of biological phenomena that researchers build. Also, because 21st century biology will be a collective effort, it is critical that data be widely shareable and interoperable among diverse laboratories and computer systems. This chapter describes the nature of biological data and the requirements that scientists place on data so that they are useful. 3.1 DATA HETEROGENEITY An immense challenge—one of the most central facing 21st century biology—is that of managing the variety and complexity of data types, the hierarchy of biology, and the inevitable need to acquire data by a wide variety of modalities. Biological data come in many types. For instance, biological data may consist of the following:1 • Sequences. Sequence data, such as those associated with the DNA of various species, have grown enormously with the development of automated sequencing technology. In addition to the human genome, a variety of other genomes have been collected, covering organisms including bacteria, yeast, chicken, fruit flies, and mice.2 Other projects seek to characterize the genomes of all of the organisms living in a given ecosystem even without knowing all of them beforehand.3 Sequence data generally 1This discussion of data types draws heavily on H.V. Jagadish and F. Olken, eds., Data Management for the Biosciences, Report of the NSF/NLM Workshop of Data Management for Molecular and Cell Biology, February 2-3, 2003, Available at http:// www.eecs.umich.edu/~jag/wdmbio/wdmb_rpt.pdf. -
Biology (BA) Biology (BA)
Biology (BA) Biology (BA) This program is offered by the College of Arts & Sciences/ • CHEM 1110 General Chemistry II (3 hours) Biological Sciences Department and is only available at the St. and CHEM 1111 General Chemistry II: Lab (1 hour) Louis home campus. • CHEM 2100 Organic Chemistry I (3 hours) and CHEM 2101 Organic Chemistry I: Lab (1 hour) Program Description • MATH 1430 College Algebra (3 hours) • MATH 2200 Statistics (3 hours) The bachelor of arts degree is designed for students who seek or STAT 3100 Inferential Statistics (3 hours) a broad education in biology. This degree is suitable preparation or PSYC 2750 Introduction to Measurement and Statistics (3 for a diverse range of careers including health science, science hours) education and ecology-related fields. • PHYS 1710 College Physics I (3 hours) Students can earn the BA in biology alone, or with one of four and PHYS 1711 College Physics I: Lab (1 hour) emphases: biodiversity, computational biology, education or • PHYS 1720 College Physics II (3 hours) health science. and PHYS 1721 College Physics II: Lab (1 hour) Learning Outcomes BA in Biology (66 hours) Students who complete any of the bachelor of arts in biology will The general degree offers the greatest flexibility, allowing students be able to: to select 12 hours of electives from any of our 2000+ level BIOL, CHEM or PHYS courses in addition to the 54 credits of core • Describe biological, chemical and physical principles as they coursework in biology listed above. (Up to 3 credit hours of BIOL relate to the natural world in writings and presentations to a 4700/CHEM 4700/PHYS 4700 can be used toward these 12 credit diverse audience. -
Genome 559 Intro to Statistical and Computational Genomics
Genome 559! Intro to Statistical and Computational Genomics! Lecture 16a: Computational Gene Prediction Larry Ruzzo Today: Finding protein-coding genes coding sequence statistics prokaryotes mammals More on classes More practice Codons & The Genetic Code Ala : Alanine Second Base Arg : Arginine U C A G Asn : Asparagine Phe Ser Tyr Cys U Asp : Aspartic acid Phe Ser Tyr Cys C Cys : Cysteine U Leu Ser Stop Stop A Gln : Glutamine Leu Ser Stop Trp G Glu : Glutamic acid Leu Pro His Arg U Gly : Glycine Leu Pro His Arg C His : Histidine C Leu Pro Gln Arg A Ile : Isoleucine Leu Pro Gln Arg G Leu : Leucine Ile Thr Asn Ser U Lys : Lysine Ile Thr Asn Ser C Met : Methionine First Base A Third Base Ile Thr Lys Arg A Phe : Phenylalanine Met/Start Thr Lys Arg G Pro : Proline Val Ala Asp Gly U Ser : Serine Val Ala Asp Gly C Thr : Threonine G Val Ala Glu Gly A Trp : Tryptophane Val Ala Glu Gly G Tyr : Tyrosine Val : Valine Idea #1: Find Long ORF’s Reading frame: which of the 3 possible sequences of triples does the ribosome read? Open Reading Frame: No stop codons In random DNA average ORF = 64/3 = 21 triplets 300bp ORF once per 36kbp per strand But average protein ~ 1000bp So, coding DNA is not random–stops are rare Scanning for ORFs 1 2 3 U U A A U G U G U C A U U G A U U A A G! A A U U A C A C A G U A A C U A A U A C! 4 5 6 Idea #2: Codon Frequency,… Even between stops, coding DNA is not random In random DNA, Leu : Ala : Tryp = 6 : 4 : 1 But in real protein, ratios ~ 6.9 : 6.5 : 1 Even more: synonym usage is biased (in a species dependant way) Examples known with 90% AT 3rd base Why? E.g. -
In Silico Tools for Splicing Defect Prediction: a Survey from the Viewpoint of End Users
© American College of Medical Genetics and Genomics REVIEW In silico tools for splicing defect prediction: a survey from the viewpoint of end users Xueqiu Jian, MPH1, Eric Boerwinkle, PhD1,2 and Xiaoming Liu, PhD1 RNA splicing is the process during which introns are excised and informaticians in relevant areas who are working on huge data sets exons are spliced. The precise recognition of splicing signals is critical may also benefit from this review. Specifically, we focus on those tools to this process, and mutations affecting splicing comprise a consider- whose primary goal is to predict the impact of mutations within the able proportion of genetic disease etiology. Analysis of RNA samples 5′ and 3′ splicing consensus regions: the algorithms used by different from the patient is the most straightforward and reliable method to tools as well as their major advantages and disadvantages are briefly detect splicing defects. However, currently, the technical limitation introduced; the formats of their input and output are summarized; prohibits its use in routine clinical practice. In silico tools that predict and the interpretation, evaluation, and prospection are also discussed. potential consequences of splicing mutations may be useful in daily Genet Med advance online publication 21 November 2013 diagnostic activities. In this review, we provide medical geneticists with some basic insights into some of the most popular in silico tools Key Words: bioinformatics; end user; in silico prediction tool; for splicing defect prediction, from the viewpoint of end users. Bio- medical genetics; splicing consensus region; splicing mutation INTRODUCTION TO PRE-mRNA SPLICING AND small nuclear ribonucleoproteins and more than 150 proteins, MUTATIONS AFFECTING SPLICING serine/arginine-rich (SR) proteins, heterogeneous nuclear ribo- Sixty years ago, the milestone discovery of the double-helix nucleoproteins, and the regulatory complex (Figure 1). -
Masterpath: Network Analysis of Functional Genomics Screening Data
MasterPATH: network analysis of functional genomics screening data Natalia Rubanova, Guillaume Pinna, Jeremie Kropp, Anna Campalans, Juan Pablo Radicella, Anna Polesskaya, Annick Harel-Bellan, Nadya Morozova To cite this version: Natalia Rubanova, Guillaume Pinna, Jeremie Kropp, Anna Campalans, Juan Pablo Radicella, et al.. MasterPATH: network analysis of functional genomics screening data. BMC Genomics, BioMed Central, 2020, 21 (1), pp.632. 10.1186/s12864-020-07047-2. hal-02944249 HAL Id: hal-02944249 https://hal.archives-ouvertes.fr/hal-02944249 Submitted on 26 Nov 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Rubanova et al. BMC Genomics (2020) 21:632 https://doi.org/10.1186/s12864-020-07047-2 METHODOLOGY ARTICLE Open Access MasterPATH: network analysis of functional genomics screening data Natalia Rubanova1,2,3* , Guillaume Pinna4, Jeremie Kropp1, Anna Campalans5,6,7, Juan Pablo Radicella5,6,7, Anna Polesskaya8, Annick Harel-Bellan1 and Nadya Morozova1,4 Abstract Background: Functional genomics employs several experimental approaches to investigate gene functions. High- throughput techniques, such as loss-of-function screening and transcriptome profiling, allow to identify lists of genes potentially involved in biological processes of interest (so called hit list). -
Ijphs Jan Feb 07.Pmd
www.ijpsonline.com Review Article Pharmacogenomics and Computational Genomics: An Appraisal P. K. TRIPATHI*, SHALINI TRIPATHI AND N. K. JAIN1 Rajarshi Rananjay Sinh College of Pharmacy, Amethi-227 405, 1Department of Pharmaceutical Sciences, Dr. H. S. Gour Vishwavidyalaya, Sagar-470 003, India. Pharmacogenomics deals with the interactions of individual genetic constitution with drug therapy. It is very likely that pharmacogenetic tests will make up a significant proportion of total molecular biology testing in future. Therefore, this article emphasizes the applications of pharmacogenomics, and computational genome analysis in drug therapy. Patients sometimes experience adverse drug reactions for both efficacy and safety of a given drug regimen and (ADR) leading to deterioration of their underlying this is the central topic of pharmacogenomics. Drug condition in clinical practice. Physiology of individual development and pretreatment genetic analysis of patients patient can vary, so the response of an individual to drug will be two major practical aspects in pharmacogenomics. therapy may also be highly variable. This is a major Highly specialized drug research laboratories will achieve clinical problem, since this inter-individual variability is the first goal, while the second goal has to be achieved until now only partly predictable. Besides these medical by clinical .com).laboratories 2,3. problems, cost-benefit calculations for a given pharmacological therapy will be affected significantly. Drug development: This is exemplified by a recent US study, which estimates There are two pharmacogenomic approaches. First, for that over 100,000 patients die every year from ADRs1. most therapies a correct diagnosis is mandatory for a satisfactory therapeutic result. This is more relevant There are many factors such as age, sex, nutritional.medknow because many diseases may be caused by different status, kidney and liver function, concomitant diseases and genetic defects or be significantly affected by the genetic medications, and the disease that affects drug responses. -
Visualization of Biomedical Data
Visualization of Biomedical Data Corresponding author: Seán I. O’Donoghue; email: [email protected] • Data61, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Eveleigh NSW 2015, Australia • Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney NSW 2010, Australia • School of Biotechnology and Biomolecular Sciences, UNSW, Kensington NSW 2033, Australia Benedetta Frida Baldi; email: [email protected] • Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney NSW 2010, Australia Susan J Clark; email: [email protected] • Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney NSW 2010, Australia Aaron E. Darling; email: [email protected] • The ithree institute, University of Technology Sydney, Ultimo NSW 2007, Australia James M. Hogan; email: [email protected] • School of Electrical Engineering and Computer Science, Queensland University of Technology, Brisbane QLD, 4000, Australia Sandeep Kaur; email: [email protected] • School of Computer Science and Engineering, UNSW, Kensington NSW 2033, Australia Lena Maier-Hein; email: [email protected] • Div. Computer Assisted Medical Interventions (CAMI), German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany Davis J. McCarthy; email: [email protected] • European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, CB10 1SD, Hinxton, Cambridge, UK • St. Vincent’s Institute of Medical Research, Fitzroy VIC 3065, Australia William -
The Economic Impact and Functional Applications of Human Genetics and Genomics
The Economic Impact and Functional Applications of Human Genetics and Genomics Commissioned by the American Society of Human Genetics Produced by TEConomy Partners, LLC. Report Authors: Simon Tripp and Martin Grueber May 2021 TEConomy Partners, LLC (TEConomy) endeavors at all times to produce work of the highest quality, consistent with our contract commitments. However, because of the research and/or experimental nature of this work, the client undertakes the sole responsibility for the consequence of any use or misuse of, or inability to use, any information or result obtained from TEConomy, and TEConomy, its partners, or employees have no legal liability for the accuracy, adequacy, or efficacy thereof. Acknowledgements ASHG and the project authors wish to thank the following organizations for their generous support of this study. Invitae Corporation, San Francisco, CA Regeneron Pharmaceuticals, Inc., Tarrytown, NY The project authors express their sincere appreciation to the following indi- viduals who provided their advice and input to this project. ASHG Government and Public Advocacy Committee Lynn B. Jorde, PhD ASHG Government and Public Advocacy Committee (GPAC) Chair, President (2011) Professor and Chair of Human Genetics George and Dolores Eccles Institute of Human Genetics University of Utah School of Medicine Katrina Goddard, PhD ASHG GPAC Incoming Chair, Board of Directors (2018-2020) Distinguished Investigator, Associate Director, Science Programs Kaiser Permanente Northwest Melinda Aldrich, PhD, MPH Associate Professor, Department of Medicine, Division of Genetic Medicine Vanderbilt University Medical Center Wendy Chung, MD, PhD Professor of Pediatrics in Medicine and Director, Clinical Cancer Genetics Columbia University Mira Irons, MD Chief Health and Science Officer American Medical Association Peng Jin, PhD Professor and Chair, Department of Human Genetics Emory University Allison McCague, PhD Science Policy Analyst, Policy and Program Analysis Branch National Human Genome Research Institute Rebecca Meyer-Schuman, MS Human Genetics Ph.D.