The European Nucleotide Archive (ENA)
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
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 -
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. -
Bioinformatics Study of Lectins: New Classification and Prediction In
Bioinformatics study of lectins : new classification and prediction in genomes François Bonnardel To cite this version: François Bonnardel. Bioinformatics study of lectins : new classification and prediction in genomes. Structural Biology [q-bio.BM]. Université Grenoble Alpes [2020-..]; Université de Genève, 2021. En- glish. NNT : 2021GRALV010. tel-03331649 HAL Id: tel-03331649 https://tel.archives-ouvertes.fr/tel-03331649 Submitted on 2 Sep 2021 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. THÈSE Pour obtenir le grade de DOCTEUR DE L’UNIVERSITE GRENOBLE ALPES préparée dans le cadre d’une cotutelle entre la Communauté Université Grenoble Alpes et l’Université de Genève Spécialités: Chimie Biologie Arrêté ministériel : le 6 janvier 2005 – 25 mai 2016 Présentée par François Bonnardel Thèse dirigée par la Dr. Anne Imberty codirigée par la Dr/Prof. Frédérique Lisacek préparée au sein du laboratoire CERMAV, CNRS et du Computer Science Department, UNIGE et de l’équipe PIG, SIB Dans les Écoles Doctorales EDCSV et UNIGE Etude bioinformatique des lectines: nouvelle classification et prédiction dans les génomes Thèse soutenue publiquement le 8 Février 2021, devant le jury composé de : Dr. Alexandre de Brevern UMR S1134, Inserm, Université Paris Diderot, Paris, France, Rapporteur Dr. -
A Semantic Standard for Describing the Location of Nucleotide and Protein Feature Annotation Jerven T
Bolleman et al. Journal of Biomedical Semantics (2016) 7:39 DOI 10.1186/s13326-016-0067-z RESEARCH Open Access FALDO: a semantic standard for describing the location of nucleotide and protein feature annotation Jerven T. Bolleman1*, Christopher J. Mungall2, Francesco Strozzi3, Joachim Baran4, Michel Dumontier5, Raoul J. P. Bonnal6, Robert Buels7, Robert Hoehndorf8, Takatomo Fujisawa9, Toshiaki Katayama10 and Peter J. A. Cock11 Abstract Background: Nucleotide and protein sequence feature annotations are essential to understand biology on the genomic, transcriptomic, and proteomic level. Using Semantic Web technologies to query biological annotations, there was no standard that described this potentially complex location information as subject-predicate-object triples. Description: We have developed an ontology, the Feature Annotation Location Description Ontology (FALDO), to describe the positions of annotated features on linear and circular sequences. FALDO can be used to describe nucleotide features in sequence records, protein annotations, and glycan binding sites, among other features in coordinate systems of the aforementioned “omics” areas. Using the same data format to represent sequence positions that are independent of file formats allows us to integrate sequence data from multiple sources and data types. The genome browser JBrowse is used to demonstrate accessing multiple SPARQL endpoints to display genomic feature annotations, as well as protein annotations from UniProt mapped to genomic locations. Conclusions: Our ontology allows -
"Phylogenetic Analysis of Protein Sequence Data Using The
Phylogenetic Analysis of Protein Sequence UNIT 19.11 Data Using the Randomized Axelerated Maximum Likelihood (RAXML) Program Antonis Rokas1 1Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee ABSTRACT Phylogenetic analysis is the study of evolutionary relationships among molecules, phenotypes, and organisms. In the context of protein sequence data, phylogenetic analysis is one of the cornerstones of comparative sequence analysis and has many applications in the study of protein evolution and function. This unit provides a brief review of the principles of phylogenetic analysis and describes several different standard phylogenetic analyses of protein sequence data using the RAXML (Randomized Axelerated Maximum Likelihood) Program. Curr. Protoc. Mol. Biol. 96:19.11.1-19.11.14. C 2011 by John Wiley & Sons, Inc. Keywords: molecular evolution r bootstrap r multiple sequence alignment r amino acid substitution matrix r evolutionary relationship r systematics INTRODUCTION the baboon-colobus monkey lineage almost Phylogenetic analysis is a standard and es- 25 million years ago, whereas baboons and sential tool in any molecular biologist’s bioin- colobus monkeys diverged less than 15 mil- formatics toolkit that, in the context of pro- lion years ago (Sterner et al., 2006). Clearly, tein sequence analysis, enables us to study degree of sequence similarity does not equate the evolutionary history and change of pro- with degree of evolutionary relationship. teins and their function. Such analysis is es- A typical phylogenetic analysis of protein sential to understanding major evolutionary sequence data involves five distinct steps: (a) questions, such as the origins and history of data collection, (b) inference of homology, (c) macromolecules, developmental mechanisms, sequence alignment, (d) alignment trimming, phenotypes, and life itself. -
EMBL-EBI Powerpoint Presentation
Processing data from high-throughput sequencing experiments Simon Anders Use-cases for HTS · de-novo sequencing and assembly of small genomes · transcriptome analysis (RNA-Seq, sRNA-Seq, ...) • identifying transcripted regions • expression profiling · Resequencing to find genetic polymorphisms: • SNPs, micro-indels • CNVs · ChIP-Seq, nucleosome positions, etc. · DNA methylation studies (after bisulfite treatment) · environmental sampling (metagenomics) · reading bar codes Use cases for HTS: Bioinformatics challenges Established procedures may not be suitable. New algorithms are required for · assembly · alignment · statistical tests (counting statistics) · visualization · segmentation · ... Where does Bioconductor come in? Several steps: · Processing of the images and determining of the read sequencest • typically done by core facility with software from the manufacturer of the sequencing machine · Aligning the reads to a reference genome (or assembling the reads into a new genome) • Done with community-developed stand-alone tools. · Downstream statistical analyis. • Write your own scripts with the help of Bioconductor infrastructure. Solexa standard workflow SolexaPipeline · "Firecrest": Identifying clusters ⇨ typically 15..20 mio good clusters per lane · "Bustard": Base calling ⇨ sequence for each cluster, with Phred-like scores · "Eland": Aligning to reference Firecrest output Large tab-separated text files with one row per identified cluster, specifying · lane index and tile index · x and y coordinates of cluster on tile · for each -
A SARS-Cov-2 Sequence Submission Tool for the European Nucleotide
Databases and ontologies Downloaded from https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btab421/6294398 by guest on 25 June 2021 A SARS-CoV-2 sequence submission tool for the European Nucleotide Archive Miguel Roncoroni 1,2,∗, Bert Droesbeke 1,2, Ignacio Eguinoa 1,2, Kim De Ruyck 1,2, Flora D’Anna 1,2, Dilmurat Yusuf 3, Björn Grüning 3, Rolf Backofen 3 and Frederik Coppens 1,2 1Department of Plant Biotechnology and Bioinformatics, Ghent University, 9052 Ghent, Belgium, 1VIB Center for Plant Systems Biology, 9052 Ghent, Belgium and 2University of Freiburg, Department of Computer Science, Freiburg im Breisgau, Baden-Württemberg, Germany ∗To whom correspondence should be addressed. Associate Editor: XXXXXXX Received on XXXXX; revised on XXXXX; accepted on XXXXX Abstract Summary: Many aspects of the global response to the COVID-19 pandemic are enabled by the fast and open publication of SARS-CoV-2 genetic sequence data. The European Nucleotide Archive (ENA) is the European recommended open repository for genetic sequences. In this work, we present a tool for submitting raw sequencing reads of SARS-CoV-2 to ENA. The tool features a single-step submission process, a graphical user interface, tabular-formatted metadata and the possibility to remove human reads prior to submission. A Galaxy wrap of the tool allows users with little or no bioinformatic knowledge to do bulk sequencing read submissions. The tool is also packed in a Docker container to ease deployment. Availability: CLI ENA upload tool is available at github.com/usegalaxy- eu/ena-upload-cli (DOI 10.5281/zenodo.4537621); Galaxy ENA upload tool at toolshed.g2.bx.psu.edu/view/iuc/ena_upload/382518f24d6d and https://github.com/galaxyproject/tools- iuc/tree/master/tools/ena_upload (development) and; ENA upload Galaxy container at github.com/ELIXIR- Belgium/ena-upload-container (DOI 10.5281/zenodo.4730785) Contact: [email protected] 1 Introduction Nucleotide Archive (ENA). -
An Open-Sourced Bioinformatic Pipeline for the Processing of Next-Generation Sequencing Derived Nucleotide Reads
bioRxiv preprint doi: https://doi.org/10.1101/2020.04.20.050369; this version posted May 28, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY 4.0 International license. An open-sourced bioinformatic pipeline for the processing of Next-Generation Sequencing derived nucleotide reads: Identification and authentication of ancient metagenomic DNA Thomas C. Collin1, *, Konstantina Drosou2, 3, Jeremiah Daniel O’Riordan4, Tengiz Meshveliani5, Ron Pinhasi6, and Robin N. M. Feeney1 1School of Medicine, University College Dublin, Ireland 2Division of Cell Matrix Biology Regenerative Medicine, University of Manchester, United Kingdom 3Manchester Institute of Biotechnology, School of Earth and Environmental Sciences, University of Manchester, United Kingdom [email protected] 5Institute of Paleobiology and Paleoanthropology, National Museum of Georgia, Tbilisi, Georgia 6Department of Evolutionary Anthropology, University of Vienna, Austria *Corresponding Author Abstract The emerging field of ancient metagenomics adds to these Bioinformatic pipelines optimised for the processing and as- processing complexities with the need for additional steps sessment of metagenomic ancient DNA (aDNA) are needed in the separation and authentication of ancient sequences from modern sequences. Currently, there are few pipelines for studies that do not make use of high yielding DNA cap- available for the analysis of ancient metagenomic DNA ture techniques. These bioinformatic pipelines are tradition- 1 4 ally optimised for broad aDNA purposes, are contingent on (aDNA) ≠ The limited number of bioinformatic pipelines selection biases and are associated with high costs. -
Identification of Transcribed Sequences in Arabidopsis Thaliana by Using High-Resolution Genome Tiling Arrays
Identification of transcribed sequences in Arabidopsis thaliana by using high-resolution genome tiling arrays Viktor Stolc*†‡§, Manoj Pratim Samanta‡§¶, Waraporn Tongprasitʈ, Himanshu Sethiʈ, Shoudan Liang*, David C. Nelson**, Adrian Hegeman**, Clark Nelson**, David Rancour**, Sebastian Bednarek**, Eldon L. Ulrich**, Qin Zhao**, Russell L. Wrobel**, Craig S. Newman**, Brian G. Fox**, George N. Phillips, Jr.**, John L. Markley**, and Michael R. Sussman**†† *Genome Research Facility, National Aeronautics and Space Administration Ames Research Center, Moffett Field, CA 94035; †Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06520; ¶Systemix Institute, Cupertino, CA 94035; ʈEloret Corporation at National Aeronautics and Space Administration Ames Research Center, Moffett Field, CA 94035; and **Center for Eukaryotic Structural Genomics, University of Wisconsin, Madison, WI 53706 Edited by Sidney Altman, Yale University, New Haven, CT, and approved January 28, 2005 (received for review November 4, 2004) Using a maskless photolithography method, we produced DNA Genome-wide tiling arrays can overcome many of the shortcom- oligonucleotide microarrays with probe sequences tiled through- ings of the previous approaches by comprehensively probing out the genome of the plant Arabidopsis thaliana. RNA expression transcription in all regions of the genome. This technology has was determined for the complete nuclear, mitochondrial, and been used successfully on different organisms (5–12). A recent chloroplast genomes by tiling 5 million 36-mer probes. These study on A. thaliana reported measuring transcriptional activities probes were hybridized to labeled mRNA isolated from liquid of four different cell lines by using 25-mer-based tiling arrays that grown T87 cells, an undifferentiated Arabidopsis cell culture line. -
Six-Fold Speed-Up of Smith-Waterman Sequence Database Searches Using Parallel Processing on Common Microprocessors
Six-fold speed-up of Smith-Waterman sequence database searches using parallel processing on common microprocessors Running head: Six-fold speed-up of Smith-Waterman searches Torbjørn Rognes* and Erling Seeberg Institute of Medical Microbiology, University of Oslo, The National Hospital, NO-0027 Oslo, Norway Abstract Motivation: Sequence database searching is among the most important and challenging tasks in bioinformatics. The ultimate choice of sequence search algorithm is that of Smith- Waterman. However, because of the computationally demanding nature of this method, heuristic programs or special-purpose hardware alternatives have been developed. Increased speed has been obtained at the cost of reduced sensitivity or very expensive hardware. Results: A fast implementation of the Smith-Waterman sequence alignment algorithm using SIMD (Single-Instruction, Multiple-Data) technology is presented. This implementation is based on the MMX (MultiMedia eXtensions) and SSE (Streaming SIMD Extensions) technology that is embedded in Intel’s latest microprocessors. Similar technology exists also in other modern microprocessors. Six-fold speed-up relative to the fastest previously known Smith-Waterman implementation on the same hardware was achieved by an optimised 8-way parallel processing approach. A speed of more than 150 million cell updates per second was obtained on a single Intel Pentium III 500MHz microprocessor. This is probably the fastest implementation of this algorithm on a single general-purpose microprocessor described to date. Availability: Online searches with the software are available at http://dna.uio.no/search/ Contact: [email protected] Published in Bioinformatics (2000) 16 (8), 699-706. Copyright © (2000) Oxford University Press. *) To whom correspondence should be addressed. -
HTG Data Input: Annotation File Output in DDBJ Flat File
HTG data Input: Annotation file Output in DDBJ flat file LOCUS ############ 123456 bp DNA linear HTG 30-SEP-2017 Entry Feature Location Qualifier Value DEFINITION Arabidopsis thaliana DNA, BAC clone: CIC5D1, chromosome 1, *** COMMON DATE hold_date 20191130 SEQUENCING IN PROGRESS *** SUBMITTER contact Hanako Mishima ACCESSION ############ ab_name Mishima,H. VERSION ############.1 ab_name Yamada,T. DBLINK ab_name Park,C.S. KEYWORDS HTG; HTGS_PHASE1. ab_name Liu,G.Q. SOURCE Arabidopsis thaliana (thale cress) email [email protected] ORGANISM Arabidopsis thaliana phone 81-55-981-6853 Eukaryota; Viridiplantae; Streptophyta; Embryophyta; Tracheophyta; fax 81-55-981-6849 Spermatophyta; Magnoliophyta; eudicotyledons; core eudicotyledons; institute National Institute of Genetics rosids; malvids; Brassicales; Brassicaceae; Camelineae; department DNA Data Bank of Japan Arabidopsis. country Japan REFERENCE 1 (bases 1 to 123456) state Shizuoka AUTHORS Mishima,H., ada,T., Park,C.S. and Liu,G.Q. city Mishima TITLE Direct Submission street Yata 1111 JOURNAL Submitted (dd-mmm-yyyy) to the DDBJ/EMBL/GenBank databases. zip 411-8540 Contact:Hanako Mishima REFERENCE ab_name Mishima,H. National Institute of Genetics, DNA Data Bank of Japan; Yata 1111, ab_name Yamada,T. Mishima, Shizuoka 411-8540, Japan ab_name Park,C.S. REFERENCE 2 ab_name Liu,G.Q. AUTHORS Mishima,H., ada,T., Park,C.S. and Liu,G.Q. title Arabidopsis thaliana DNA TITLE Arabidopsis thaliana Sequencing year 2017 JOURNAL Unpublished (2017) status Unpublished COMMENT Please visit our web site