Arabidopsis Thaliana Functional Genomics Project Annual Report 2008
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Original Article Text Mining in the Biocuration Workflow: Applications for Literature Curation at Wormbase, Dictybase and TAIR
Database, Vol. 2012, Article ID bas040, doi:10.1093/database/bas040 ............................................................................................................................................................................................................................................................................................. Original article Text mining in the biocuration workflow: applications for literature curation at WormBase, dictyBase and TAIR Kimberly Van Auken1,*, Petra Fey2, Tanya Z. Berardini3, Robert Dodson2, Laurel Cooper4, Donghui Li3, Juancarlos Chan1, Yuling Li1, Siddhartha Basu2, Hans-Michael Muller1, Downloaded from Rex Chisholm2, Eva Huala3, Paul W. Sternberg1,5 and the WormBase Consortium 1Division of Biology, California Institute of Technology, 1200 E. California Boulevard, Pasadena, CA 91125, 2Northwestern University Biomedical Informatics Center and Center for Genetic Medicine, 420 E. Superior Street, Chicago, IL 60611, 3Department of Plant Biology, Carnegie Institution, 260 Panama Street, Stanford, CA 94305, 4Department of Botany and Plant Pathology, Oregon State University, Corvallis, OR 97331 and 5Howard Hughes Medical Institute, California Institute of Technology, 1200 E. California Boulevard, Pasadena, CA 91125, USA http://database.oxfordjournals.org/ *Corresponding author: Tel: +1 609 937 1635; Fax: +1 626 568 8012; Email: [email protected] Submitted 18 June 2012; Revised 30 September 2012; Accepted 2 October 2012 ............................................................................................................................................................................................................................................................................................ -
Analysis of the Impact of Sequencing Errors on Blast Using Fault Injection
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Illinois Digital Environment for Access to Learning and Scholarship Repository ANALYSIS OF THE IMPACT OF SEQUENCING ERRORS ON BLAST USING FAULT INJECTION BY SO YOUN LEE THESIS Submitted in partial fulfillment of the requirements for the degree of Master of Science in Electrical and Computer Engineering in the Graduate College of the University of Illinois at Urbana-Champaign, 2013 Urbana, Illinois Adviser: Professor Ravishankar K. Iyer ABSTRACT This thesis investigates the impact of sequencing errors in post-sequence computational analyses, including local alignment search and multiple sequence alignment. While the error rates of sequencing technology are commonly reported, the significance of these numbers cannot be fully grasped without putting them in the perspective of their impact on the downstream analyses that are used for biological research, forensics, diagnosis of diseases, etc. I approached the quantification of the impact using fault injection. Faults were injected in the input sequence data, and the analyses were run. Change in the output of the analyses was interpreted as the impact of faults, or errors. Three commonly used algorithms were used: BLAST, SSEARCH, and ProbCons. The main contributions of this work are the application of fault injection to the reliability analysis in bioinformatics and the quantitative demonstration that a small error rate in the sequence data can alter the output of the analysis in a significant way. BLAST and SSEARCH are both local alignment search tools, but BLAST is a heuristic implementation, while SSEARCH is based on the optimal Smith-Waterman algorithm. -
Advancing Solutions to the Carbohydrate Sequencing Challenge † † † ‡ § Christopher J
Perspective Cite This: J. Am. Chem. Soc. 2019, 141, 14463−14479 pubs.acs.org/JACS Advancing Solutions to the Carbohydrate Sequencing Challenge † † † ‡ § Christopher J. Gray, Lukasz G. Migas, Perdita E. Barran, Kevin Pagel, Peter H. Seeberger, ∥ ⊥ # ⊗ ∇ Claire E. Eyers, Geert-Jan Boons, Nicola L. B. Pohl, Isabelle Compagnon, , × † Göran Widmalm, and Sabine L. Flitsch*, † School of Chemistry & Manchester Institute of Biotechnology, The University of Manchester, 131 Princess Street, Manchester M1 7DN, U.K. ‡ Institute for Chemistry and Biochemistry, Freie Universitaẗ Berlin, Takustraße 3, 14195 Berlin, Germany § Biomolecular Systems Department, Max Planck Institute for Colloids and Interfaces, Am Muehlenberg 1, 14476 Potsdam, Germany ∥ Department of Biochemistry, Institute of Integrative Biology, University of Liverpool, Crown Street, Liverpool L69 7ZB, U.K. ⊥ Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602, United States # Department of Chemistry, Indiana University, Bloomington, Indiana 47405, United States ⊗ Institut Lumierè Matiere,̀ UMR5306 UniversitéLyon 1-CNRS, Universitéde Lyon, 69622 Villeurbanne Cedex, France ∇ Institut Universitaire de France IUF, 103 Blvd St Michel, 75005 Paris, France × Department of Organic Chemistry, Arrhenius Laboratory, Stockholm University, S-106 91 Stockholm, Sweden *S Supporting Information established connection between their structure and their ABSTRACT: Carbohydrates possess a variety of distinct function, full characterization of unknown carbohydrates features with -
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). -
The ELIXIR Core Data Resources: Fundamental Infrastructure for The
Supplementary Data: The ELIXIR Core Data Resources: fundamental infrastructure for the life sciences The “Supporting Material” referred to within this Supplementary Data can be found in the Supporting.Material.CDR.infrastructure file, DOI: 10.5281/zenodo.2625247 (https://zenodo.org/record/2625247). Figure 1. Scale of the Core Data Resources Table S1. Data from which Figure 1 is derived: Year 2013 2014 2015 2016 2017 Data entries 765881651 997794559 1726529931 1853429002 2715599247 Monthly user/IP addresses 1700660 2109586 2413724 2502617 2867265 FTEs 270 292.65 295.65 289.7 311.2 Figure 1 includes data from the following Core Data Resources: ArrayExpress, BRENDA, CATH, ChEBI, ChEMBL, EGA, ENA, Ensembl, Ensembl Genomes, EuropePMC, HPA, IntAct /MINT , InterPro, PDBe, PRIDE, SILVA, STRING, UniProt ● Note that Ensembl’s compute infrastructure physically relocated in 2016, so “Users/IP address” data are not available for that year. In this case, the 2015 numbers were rolled forward to 2016. ● Note that STRING makes only minor releases in 2014 and 2016, in that the interactions are re-computed, but the number of “Data entries” remains unchanged. The major releases that change the number of “Data entries” happened in 2013 and 2015. So, for “Data entries” , the number for 2013 was rolled forward to 2014, and the number for 2015 was rolled forward to 2016. The ELIXIR Core Data Resources: fundamental infrastructure for the life sciences 1 Figure 2: Usage of Core Data Resources in research The following steps were taken: 1. API calls were run on open access full text articles in Europe PMC to identify articles that mention Core Data Resource by name or include specific data record accession numbers. -
Arabidopsis Thaliana
Downloaded from genome.cshlp.org on September 28, 2021 - Published by Cold Spring Harbor Laboratory Press RESEARCH A Physical Map of Chromosome 2 of Arabidopsis thaliana Eve Ann Zachgo, 2,4 Ming Li Wang, 1'2'4 Julia Dewdney, 1'2 David Bouchez, 3 Christine Carnilleri, 3 Stephen Belmonte, 2 Lu Huang, 2 Maureen Dolan, 2 and Howard M. Goodman 1'2'5 1Department of Genetics, Harvard Medical School and 2Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114; 3Laboratoire de Biologie Cellulaire, Institut National de la Recherche Agronomique (INRA), 78026 Versailles CEDEX, France A yeast artificial chromosome (YAC] physical map of chromosome 2 of Arabidopsis thaliana has been constructed by hybridization of 69 DNA markers and 61 YAC end probes to gridded arrays of YAC clones. Thirty-four YACs in four contigs define the chromosome. Complete closure of the map was not attained because some regions of the chromosome were repetitive or were not represented in the YAC library. Based on the sizes of the YACs and their coverage of the chromosome, the length of chromosome 2 is estimated to be at least 18 Mb. These data provide the means for immediately identifying the YACs containing a genetic locus mapped on Arabidopsis chromosome 2. The small flowering plant Arabidopsis thaliana is ters (Maluszynska and Heslop-Harrison 1991; A1- an excellent model system for metabolic, genetic, bini 1994; Copenhaver et al. 1995). We present and developmental studies in plants. Its haploid here a YAC contig physical map of chromosome nuclear genome is small (-100 Mb), consisting of 2 of A. -
Summaries of FY 2001 Activities Energy Biosciences
Summaries of FY 2001 Activities Energy Biosciences August 2002 ABSTRACTS OF PROJECTS SUPPORTED IN FY 2001 (NOTE: Dollar amounts are for a twelve-month period using FY 2001 funds unless otherwise stated) 1. U.S. Department of Agriculture Urbana, IL 61801 Biochemical and molecular analysis of a new control pathway in assimilate partitioning Daniel R. Bush, USDA-ARS and Department of Plant Biology, University of Illinois at Urbana- Champaign $72,666 (21 months) Plant leaves capture light energy from the sun and transform that energy into a useful form in the process called photosynthesis. The primary product of photosynthesis is sucrose. Generally, 50 to 80% of the sucrose synthesized is transported from the leaf to supply organic nutrients to many of the edible parts of the plant such as fruits, grains, and tubers. This resource allocation process is called assimilate partitioning and alterations in this system are known to significantly affect crop productivity. We recently discovered that sucrose plays a second vital role in assimilate partitioning by acting as a signal molecule that regulates the activity and gene expression of the proton-sucrose symporter that mediates long-distance sucrose transport. Research this year showed that symporter protein and transcripts turn-over with half-lives of about 2 hr and, therefore, sucrose transport activity and phloem loading are directly proportional to symporter transcription. Moreover, we showed that sucrose is a transcriptional regulator of symporter expression. We concluded from those results that sucrose-mediated transcriptional regulation of the sucrose symporter plays a key role in coordinating resource allocation in plants. 2. U. -
Maternally Inherited Pirnas Direct Transient Heterochromatin Formation
RESEARCH ARTICLE Maternally inherited piRNAs direct transient heterochromatin formation at active transposons during early Drosophila embryogenesis Martin H Fabry, Federica A Falconio, Fadwa Joud, Emily K Lythgoe, Benjamin Czech*, Gregory J Hannon* CRUK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Cambridge, United Kingdom Abstract The PIWI-interacting RNA (piRNA) pathway controls transposon expression in animal germ cells, thereby ensuring genome stability over generations. In Drosophila, piRNAs are intergenerationally inherited through the maternal lineage, and this has demonstrated importance in the specification of piRNA source loci and in silencing of I- and P-elements in the germ cells of daughters. Maternally inherited Piwi protein enters somatic nuclei in early embryos prior to zygotic genome activation and persists therein for roughly half of the time required to complete embryonic development. To investigate the role of the piRNA pathway in the embryonic soma, we created a conditionally unstable Piwi protein. This enabled maternally deposited Piwi to be cleared from newly laid embryos within 30 min and well ahead of the activation of zygotic transcription. Examination of RNA and protein profiles over time, and correlation with patterns of H3K9me3 deposition, suggests a role for maternally deposited Piwi in attenuating zygotic transposon expression in somatic cells of the developing embryo. In particular, robust deposition of piRNAs targeting roo, an element whose expression is mainly restricted to embryonic development, results in the deposition of transient heterochromatic marks at active roo insertions. We hypothesize that *For correspondence: roo, an extremely successful mobile element, may have adopted a lifestyle of expression in the [email protected] embryonic soma to evade silencing in germ cells. -
To Find Information About Arabidopsis Genes Leonore Reiser1, Shabari
UNIT 1.11 Using The Arabidopsis Information Resource (TAIR) to Find Information About Arabidopsis Genes Leonore Reiser1, Shabari Subramaniam1, Donghui Li1, and Eva Huala1 1Phoenix Bioinformatics, Redwood City, CA USA ABSTRACT The Arabidopsis Information Resource (TAIR; http://arabidopsis.org) is a comprehensive Web resource of Arabidopsis biology for plant scientists. TAIR curates and integrates information about genes, proteins, gene function, orthologs gene expression, mutant phenotypes, biological materials such as clones and seed stocks, genetic markers, genetic and physical maps, genome organization, images of mutant plants, protein sub-cellular localizations, publications, and the research community. The various data types are extensively interconnected and can be accessed through a variety of Web-based search and display tools. This unit primarily focuses on some basic methods for searching, browsing, visualizing, and analyzing information about Arabidopsis genes and genome, Additionally we describe how members of the community can share data using TAIR’s Online Annotation Submission Tool (TOAST), in order to make their published research more accessible and visible. Keywords: Arabidopsis ● databases ● bioinformatics ● data mining ● genomics INTRODUCTION The Arabidopsis Information Resource (TAIR; http://arabidopsis.org) is a comprehensive Web resource for the biology of Arabidopsis thaliana (Huala et al., 2001; Garcia-Hernandez et al., 2002; Rhee et al., 2003; Weems et al., 2004; Swarbreck et al., 2008, Lamesch, et al., 2010, Berardini et al., 2016). The TAIR database contains information about genes, proteins, gene expression, mutant phenotypes, germplasms, clones, genetic markers, genetic and physical maps, genome organization, publications, and the research community. In addition, seed and DNA stocks from the Arabidopsis Biological Resource Center (ABRC; Scholl et al., 2003) are integrated with genomic data, and can be ordered through TAIR. -
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). -
Comprehensive Analysis of CRISPR/Cas9-Mediated Mutagenesis in Arabidopsis Thaliana by Genome-Wide Sequencing
International Journal of Molecular Sciences Article Comprehensive Analysis of CRISPR/Cas9-Mediated Mutagenesis in Arabidopsis thaliana by Genome-Wide Sequencing Wenjie Xu 1,2 , Wei Fu 2, Pengyu Zhu 2, Zhihong Li 1, Chenguang Wang 2, Chaonan Wang 1,2, Yongjiang Zhang 2 and Shuifang Zhu 1,2,* 1 College of Plant Protection, China Agricultural University, Beijing 100193 China 2 Institute of Plant Quarantine, Chinese Academy of Inspection and Quarantine, Beijing 100176, China * Correspondence: [email protected] Received: 9 July 2019; Accepted: 21 August 2019; Published: 23 August 2019 Abstract: The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) system has been widely applied in functional genomics research and plant breeding. In contrast to the off-target studies of mammalian cells, there is little evidence for the common occurrence of off-target sites in plants and a great need exists for accurate detection of editing sites. Here, we summarized the precision of CRISPR/Cas9-mediated mutations for 281 targets and found that there is a preference for single nucleotide deletions/insertions and longer deletions starting from 40 nt upstream or ending at 30 nt downstream of the cleavage site, which suggested the candidate sequences for editing sites detection by whole-genome sequencing (WGS). We analyzed the on-/off-target sites of 6 CRISPR/Cas9-mediated Arabidopsis plants by the optimized method. The results showed that the on-target editing frequency ranged from 38.1% to 100%, and one off target at a frequency of 9.8%–97.3% cannot be prevented by increasing the specificity or reducing the expression level of the Cas9 enzyme. -
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.