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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. -
Genomic Sequencing of SARS-Cov-2: a Guide to Implementation for Maximum Impact on Public Health
Genomic sequencing of SARS-CoV-2 A guide to implementation for maximum impact on public health 8 January 2021 Genomic sequencing of SARS-CoV-2 A guide to implementation for maximum impact on public health 8 January 2021 Genomic sequencing of SARS-CoV-2: a guide to implementation for maximum impact on public health ISBN 978-92-4-001844-0 (electronic version) ISBN 978-92-4-001845-7 (print version) © World Health Organization 2021 Some rights reserved. This work is available under the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 IGO licence (CC BY-NC-SA 3.0 IGO; https://creativecommons.org/licenses/by-nc-sa/3.0/igo). Under the terms of this licence, you may copy, redistribute and adapt the work for non-commercial purposes, provided the work is appropriately cited, as indicated below. In any use of this work, there should be no suggestion that WHO endorses any specific organization, products or services. The use of the WHO logo is not permitted. If you adapt the work, then you must license your work under the same or equivalent Creative Commons licence. If you create a translation of this work, you should add the following disclaimer along with the suggested citation: “This translation was not created by the World Health Organization (WHO). WHO is not responsible for the content or accuracy of this translation. The original English edition shall be the binding and authentic edition”. Any mediation relating to disputes arising under the licence shall be conducted in accordance with the mediation rules of the World Intellectual Property Organization (http://www.wipo.int/amc/en/mediation/rules/). -
Genome Evolution FRI, 12:30-1:30,12:30-1:30 NCB-117
BIOLOGY 4200B/9561B: WINTER 20172017 ROOM TC-203——————— (MON, WED) MON & WED,ROOM 12:30-1:30, NCB-117 TC-203 (FRI) genome evolution FRI, 12:30-1:30,12:30-1:30 NCB-117 instructor: David Smith | office: BGS3028 | office hours: FRI 4:30-5:30 | [email protected] About the class: Ever wonder why some genomes are gigantic and others are so tiny? Why some are simple, circular molecules while others are fragmented into hundreds of linear chromosomes? This course will try to answer these & other questions about genome evolution. It will explore the diversity in genomic architecture across the eukaryotic tree of life. Through lectures, student presentations, and group discussions, we will examine strange and bizarre genomes – genomes that break all of the rules. We will discuss controversial hypotheses about genome evolution and the scientists who developed them. The course also has a strong “communications” component, with lectures on scientific writing, speaking, and social media – all with a bend on genomics, of course. Prerequisites: 4200B: 1.5 Biol courses at 3000 level or above & registration in Year 4 of an Honors specialization module. 9561B: Graduate student in Biology. Text: All materials will be provided in class or online. Course website: www.arrogantgenome.com/genome-evolution/ [password: genome] Evaluation1: take-home exam class presentation •short-essay questions •describe your favourite genome •genome trivia •hypothesize about the architectural 30% 30% origins •or delve into a topic on science communication 10% journal club presentations & class discussions/debates 30% •who will speak for the genomes? 1,000- to 1,500-word essay •a person, a genome, a hypothesis, or anything pop-science. -
Functional and Evolutionary Genomic Inferences in Populus Through Genome and Population Sequencing of American and European Aspen
Functional and evolutionary genomic inferences in Populus through genome and population sequencing of American and European aspen Yao-Cheng Lina,b,c,1, Jing Wangd,e,1, Nicolas Delhommef,1, Bastian Schiffthalerg, Görel Sundströmf, Andrea Zuccoloh, Björn Nystedti, Torgeir R. Hvidsteng,j, Amanda de la Torred,k, Rosa M. Cossuh,l, Marc P. Hoeppnerm,n, Henrik Lantzm,o, Douglas G. Scofieldd,p,q, Neda Zamanif,m, Anna Johanssoni, Chanaka Mannapperumag, Kathryn M. Robinsong, Niklas Mählerg, Ilia J. Leitchr, Jaume Pellicerr, Eung-Jun Parks, Marc Van Montagua,2, Yves Van de Peera,t, Manfred Grabherrm, Stefan Janssong, Pär K. Ingvarssond,u, and Nathaniel R. Streetg,2 aVIB-UGent Center for Plant Systems Biology and Department of Plant Biotechnology and Bioinformatics, Ghent University, 9052 Ghent, Belgium; bBiotechnology Center in Southern Taiwan, Academia Sinica, Tainan 74145, Taiwan; cAgricultural Biotechnology Research Center, Academia Sinica, Tainan 74145, Taiwan; dUmeå Plant Science Centre, Department of Ecology and Environmental Science, Umeå University 901 87, Umeå, Sweden; eCentre for Integrative Genetics (CIGENE), Department of Animal and Aquacultural Sciences, Faculty of Biosciences, Norwegian University of Life Sciences, 5003 Ås, Norway; fUmeå Plant Science Centre, Department of Forest Genetics and Plant Physiology, Swedish University of Agricultural Sciences, 901 83 Umeå, Sweden; gUmeå Plant Science Centre, Department of Plant Physiology, Umeå University, 901 87 Umeå, Sweden; hInstitute of Life Sciences, Scuola Superiore Sant’Anna, 56127 -
Evodevo: an Ongoing Revolution?
philosophies Article EvoDevo: An Ongoing Revolution? Salvatore Ivan Amato Department of Cognitive Sciences, University of Messina, Via Concezione 8, 98121 Messina, Italy; [email protected] or [email protected] Received: 27 September 2020; Accepted: 2 November 2020; Published: 5 November 2020 Abstract: Since its appearance, Evolutionary Developmental Biology (EvoDevo) has been called an emerging research program, a new paradigm, a new interdisciplinary field, or even a revolution. Behind these formulas, there is the awareness that something is changing in biology. EvoDevo is characterized by a variety of accounts and by an expanding theoretical framework. From an epistemological point of view, what is the relationship between EvoDevo and previous biological tradition? Is EvoDevo the carrier of a new message about how to conceive evolution and development? Furthermore, is it necessary to rethink the way we look at both of these processes? EvoDevo represents the attempt to synthesize two logics, that of evolution and that of development, and the way we conceive one affects the other. This synthesis is far from being fulfilled, but an adequate theory of development may represent a further step towards this achievement. In this article, an epistemological analysis of EvoDevo is presented, with particular attention paid to the relations to the Extended Evolutionary Synthesis (EES) and the Standard Evolutionary Synthesis (SET). Keywords: evolutionary developmental biology; evolutionary extended synthesis; theory of development 1. Introduction: The House That Charles Built Evolutionary biology, as well as science in general, is characterized by a continuous genealogy of problems, i.e., “a kind of dialectical sequence” of problems that are “linked together in a continuous family tree” [1] (p. -
Molecular Population Genetics
| FLYBOOK ECOLOGY AND EVOLUTION Molecular Population Genetics Sònia Casillas*,† and Antonio Barbadilla*,†,1 *Institut de Biotecnologia i de Biomedicina, and yDepartament de Genètica i de Microbiologia, Campus Universitat Autònoma de Barcelona (UAB), 08193 Cerdanyola del Vallès, Barcelona, Spain ORCID IDs: 0000-0001-8191-0062 (S.C.); 0000-0002-0374-1475 (A.B.) ABSTRACT Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by in- creasingly large population scale sequence data. -
MBG*3080, Course Outline, Fall 2016
University of Guelph College of Biological Science Department of Molecular and Cellular Biology COURSE OUTLINE MBG*3080 Bacterial Genetics Fall Semester, 2016 Course description This course focuses on the genetics of prokaryotic microorganisms and their viruses. Some major topics covered are: regulation of gene expression, analysis of bacterial and phage genomes, plasmids, transposable elements, and mutation studies. Prerequisite(s): (MBG*2020 or MBG*2040), (1 of MICR*2020, MICR*2030, MICR*2420) Teaching instructor Dr. Stephen Seah Dept of Molecular and Cellular Biol. Science Complex Room 4250 [email protected] Appointments to meet instructor outside normal class hours can be made by e-mail. Course schedule Lectures: RICH2529 Mondays, Wednesdays and Fridays, 9:30 - 10:20 am Course resources Textbook: The primary textbook for the course is Molecular Genetics of Bacteria, 4th Edition 2012. Authors: Larry Snyder; Joseph E. Peters; Tina M. Henkin; Wendy Champness. This is available for purchase in the bookstore and there is one copy in the Library’s reserve desk. “Microbiology an evolving Science 3rd edition by Slonczewski and Foster” Chps 7, 8, 9, 10, 11 and 12 can be used as a reference if you need a basic understanding of the topic before reading the primary textbook. Courselink: This course will make use of the University of Guelph’s course web site on D2L (via Courselink). Consequently, you are responsible for all information posted on the Course link page for MBG*3080. Most of the slides used in lectures will be available on D2L. Note that the slides are lecture aids that help me teach the material. -
Introduction to Molecular Genetics and Genomics CHAPTER OUTLINE PRINCIPLES 1.1 DNA: the Genetic Material • Inherited Traits Are Affected by Genes
CHAPTER 1 Introduction to Molecular Genetics and Genomics CHAPTER OUTLINE PRINCIPLES 1.1 DNA: The Genetic Material • Inherited traits are affected by genes. Experimental Proof of the Genetic Function of DNA • Genes are composed of the chemical deoxyribonucleic acid Genetic Role of DNA in (DNA). Bacteriophage • DNA replicates to form copies of itself that are identical 1.2 DNA Structure: The Double Helix (except for rare mutations). 1.3 An Overview of DNA Replication • DNA contains a genetic code specifying what types of enzymes and other proteins are made in cells. 1.4 Genes and Proteins Inborn Errors of Metabolism as a • DNA occasionally mutates, and the mutant forms specify Cause of Hereditary Disease altered proteins that have reduced activity or stability. Mutant Genes and Defective Proteins • A mutant enzyme is an “inborn error of metabolism” that 1.5 Gene Expression: The Central Dogma blocks one step in a biochemical pathway for the metabolism Transcription of small molecules. Translation The Genetic Code • Traits are affected by environment as well as by genes. 1.6 Mutation • Organisms change genetically through generations in the Protein Folding and Stability process of biological evolution. 1.7 Genes and Environment 1.8 Evolution: From Genes to Genomes, from Proteins to Proteomes The Molecular Unity of Life CONNECTIONS Natural Selection and Diversity Shear Madness Alfred D. Hershey and Martha Chase 1952 Independent Functions of Viral Protein and Nucleic Acid in Growth of Bacteriophage The Black Urine Disease Archibald E. Garrod 1908 Inborn Errors of Metabolism 1 ach species of living organism has a terms of the abstract rules by which heredi- unique set of inherited characteristics tary elements (he called them “factors”) are that makes it different from other transmitted from parents to offspring. -
Outline of Human Intelligence
Outline of human intelligence The following outline is provided as an overview of and 2 Emergence and evolution topical guide to human intelligence: Human intelligence – in the human species, the mental • Noogenesis capacities to learn, understand, and reason, including the capacities to comprehend ideas, plan, problem solve, and use language to communicate. 3 Augmented with technology • Humanistic intelligence 1 Traits and aspects 1.1 In groups 4 Capacities • Collective intelligence Main article: Outline of thought • Group intelligence Cognition and mental processing 1.2 In individuals • Association • Abstract thought • Attention • Creativity • Belief • Emotional intelligence • Concept formation • Fluid and crystallized intelligence • Conception • Knowledge • Creativity • Learning • Emotion • Malleability of intelligence • Language • Memory • • Working memory Imagination • Moral intelligence • Intellectual giftedness • Problem solving • Introspection • Reaction time • Memory • Reasoning • Metamemory • Risk intelligence • Pattern recognition • Social intelligence • Metacognition • Communication • Mental imagery • Spatial intelligence • Perception • Spiritual intelligence • Reasoning • Understanding • Abductive reasoning • Verbal intelligence • Deductive reasoning • Visual processing • Inductive reasoning 1 2 8 FIELDS THAT STUDY HUMAN INTELLIGENCE • Volition 8 Fields that study human intelli- • Action gence • Problem solving • Cognitive epidemiology • Evolution of human intelligence 5 Types of people, by intelligence • Heritability of -
The Extended Evolutionary Synthesis Facilitates Evolutionary Models of Culture Change
Portland State University PDXScholar Anthropology Faculty Publications and Presentations Anthropology 2018 The Extended Evolutionary Synthesis Facilitates Evolutionary Models of Culture Change Cameron M. Smith Portland State University, [email protected] Liane Gabora University of British Columbia William Gardner-O’Kearney Portland State University, [email protected] Follow this and additional works at: https://pdxscholar.library.pdx.edu/anth_fac Part of the Anthropology Commons Let us know how access to this document benefits ou.y Citation Details Smith, Cameron M., Liana Gabora, and William Gardner-O’Kearny. 2018. Extended Evolutionary Synthesis Paves the Way for a Theory of Cultural Evolution. Cliodynamics 9: 84–107. This Article is brought to you for free and open access. It has been accepted for inclusion in Anthropology Faculty Publications and Presentations by an authorized administrator of PDXScholar. Please contact us if we can make this document more accessible: [email protected]. UC Riverside Cliodynamics Title The Extended Evolutionary Synthesis Facilitates Evolutionary Models of Culture Change Permalink https://escholarship.org/uc/item/5h97m84x Journal Cliodynamics, 9(2) Authors Smith, Cameron M. Gabora, Liane Gardner-O’Kearny, William Publication Date 2018 DOI 10.21237/C7clio9235187 License CC BY 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Cliodynamics: The Journal of Quantitative History and Cultural Evolution The Extended Evolutionary Synthesis Paves the Way for a Theory of Cultural Evolution Cameron M. Smith1, Liane Gabora2, and William Gardner-O’Kearny1 1Department of Anthropology, Portland State University 2Department of Psychology, University of British Columbia Abstract The Extended Evolutionary Synthesis (EES) is beginning to fulfill the whole promise of Darwinian insight through its extension of evolutionary understanding from the biological domain to include cultural information evolution. -
Defining Functional DNA Elements in the Human Genome Manolis Kellisa,B,1,2, Barbara Woldc,2, Michael P
PERSPECTIVE PERSPECTIVE Defining functional DNA elements in the human genome Manolis Kellisa,b,1,2, Barbara Woldc,2, Michael P. Snyderd,2, Bradley E. Bernsteinb,e,f,2, Anshul Kundajea,b,3, Georgi K. Marinovc,3, Lucas D. Warda,b,3, Ewan Birneyg, Gregory E. Crawfordh, Job Dekkeri, Ian Dunhamg, Laura L. Elnitskij, Peggy J. Farnhamk, Elise A. Feingoldj, Mark Gersteinl, Morgan C. Giddingsm, David M. Gilbertn, Thomas R. Gingeraso, Eric D. Greenj, Roderic Guigop, Tim Hubbardq, Jim Kentr, Jason D. Liebs, Richard M. Myerst, Michael J. Pazinj,BingRenu, John A. Stamatoyannopoulosv, Zhiping Wengi, Kevin P. Whitew, and Ross C. Hardisonx,1,2 aComputer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139; bBroad Institute, Cambridge, MA 02139; cDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125; dDepartment of Genetics, Stanford University, Stanford, CA 94305; eHarvard Medical School and fMassachusetts General Hospital, Boston, MA 02114; gEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, Cambridge CB10 1SD, United Kingdom; hMedical Genetics, Duke University, Durham, NC 27708; iProgram in Systems Biology, University of Massachusetts Medical School, Worcester, MA 01605; jNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; kBiochemistry and Molecular Biology, University of Southern California, Los Angeles, CA 90089; lProgram in Computational Biology and Bioinformatics, Yale University, -
THE TROUBLE with TWIN STUDIES: a Reassessment of Twin Research in the Social and Behavioral Sciences
Downloaded by [New York University] at 06:51 14 August 2016 THE TROUBLE WITH TWIN STUDIES The Trouble with Twin Studies questions popular genetic explanations of human behavioral differences based upon the existing body of twin research. Psychologist Jay Joseph outlines the fallacies of twin studies in the context of the ongoing decades-long failure to discover genes for human behavioral differences, including IQ, personality, and the major psychiatric disorders. This volume critically examines twin research, with a special emphasis on reared-apart twin studies, and incorporates new and updated perspectives, analyses, arguments, and evidence. Jay Joseph, PsyD., is a licensed psychologist practicing in the San Francisco Bay Area. Since 1998 he has published two books, several book chap- ters, and many articles in peer-reviewed journals, where he has presented a critical appraisal of genetic theories and research in psychiatry and psychology. Downloaded by [New York University] at 06:51 14 August 2016 This page intentionally left blank Downloaded by [New York University] at 06:51 14 August 2016 THE TROUBLE WITH TWIN STUDIES A Reassessment of Twin Research in the Social and Behavioral Sciences Jay Joseph Downloaded by [New York University] at 06:51 14 August 2016 First published 2015 by Routledge 711 Third Avenue, New York, NY 10017 and by Routledge 27 Church Road, Hove, East Sussex BN3 2FA Routledge is an imprint of the Taylor & Francis Group, an informa business © 2015 Jay Joseph The right of Jay Joseph to be identified as author of this work has been asserted by him in accordance with sections 77 and 78 of the Copyright, Designs and Patents Act 1988.