Biocuration Experts on the Impact of Duplication and Other Data Quality Issues in Biological Databases
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Zebrafish Disease Models to Study the Pathogenesis of Inherited Manganese Transporter Defects and Provide A
Zebrafish disease models to study the pathogenesis of inherited manganese transporter defects and provide a route for drug discovery Dr Karin Tuschl University College London PhD Supervisors: Dr Philippa Mills & Prof Stephen Wilson A thesis submitted for the degree of Doctor of Philosophy University College London August 2016 Declaration I, Karin Tuschl, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. Part of the work of this thesis has been published in the following articles for which copyright clearance has been obtained (see Appendix): - Tuschl K, et al. Manganese and the brain. Int Rev Neurobiol. 2013. 110:277- 312. - Tuschl K, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Comms. 2016. 7:11601. I confirm that these publications were written by me and may therefore partly overlap with my thesis. 2 Abstract Although manganese is required as an essential trace element excessive amounts are neurotoxic and lead to manganism, an extrapyramidal movement disorder associated with deposition of manganese in the basal ganglia. Recently, we have identified the first inborn error of manganese metabolism caused by mutations in SLC30A10, encoding a manganese transporter facilitating biliary manganese excretion. Treatment is limited to chelation therapy with intravenous disodium calcium edetate which is burdensome due to its route of administration and associated with high socioeconomic costs. Whole exome sequencing in patients with inherited hypermanganesaemia and early- onset parkinsonism-dystonia but absent SLC30A10 mutations identified SLC39A14 as a novel disease gene associated with manganese dyshomeostasis. -
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 ............................................................................................................................................................................................................................................................................................ -
Glycomics Goes Visual and Interactive
Glycomics & Lipidomics Extended Abstract Glycomics goes visual and interactive Alessandra Gastaldello structures attached to each of these sites. Mass spectrometry Abstract (MS) and microarray are high-throughput technologies that are commonly used in glycomics and glycoproteomics, which often result in the generation of large experimental datasets. Glycomics@ExPASy the glycomics tab of the Swiss Institute of Bioinformatics approaches play an essential role in automated Bioinformatics server (www.expasy.org/glycomics) was created analysis and interpretation of such data. This unit describes in 2016 to centralise web-based glycoinformatics resources and discusses the computational tools currently available for developed within an international network of glycoscientists. these analyses, and their glycomics and glycoproteomics The philosophy of this toolbox is to be {glycoscientist AND applications. protein scientist}???friendly with the aim of popularising (a) the use of bioinformatics in glycobiology and (b) the relation A key point in achieving accurate intact glycopeptide between glycobiology and protein-oriented bioinformatics identification is the definition of the glycan composition file resources. The scarcity of bridging data led us to design tools that is used to match experimental with theoretical masses by a as interactive as possible based on database connectivity in glycoproteomics search engine. At present, these files are order to facilitate data exploration and support hypothesis mainly built from searching the literature and/or querying building. The current set of resources is mostly built on top of data sources focused on posttranslational modifications. Most curated or experimental data relative to glycan structures, glycoproteomics search engines include a default composition glycoproteins, host-pathogen interactions and mass file that is readily used when processing MS data. -
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. -
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 -
Pathogenicity and Selective Constraint on Variation Near Splice Sites
Downloaded from genome.cshlp.org on September 27, 2021 - Published by Cold Spring Harbor Laboratory Press 1 Pathogenicity and selective constraint on variation near 2 splice sites 3 AUTHORS 4 Jenny Lord1, Giuseppe Gallone1, Patrick J. Short1, Jeremy F. McRae1, Holly Ironfield1, Elizabeth H. 5 Wynn1, Sebastian S. Gerety1, Liu He1, Bronwyn Kerr2,3, Diana S. Johnson4, Emma McCann5, Esther 6 Kinning6, Frances Flinter7, I. Karen Temple8,9 , Jill Clayton-Smith2,3, Meriel McEntagart10, Sally Ann 7 Lynch11, Shelagh Joss12, Sofia Douzgou2,3, Tabib Dabir13, Virginia Clowes14, Vivienne P. M. 8 McConnell13, Wayne Lam15, Caroline F. Wright16, David R. FitzPatrick1,15, Helen V. Firth1,17, Jeffrey 9 C. Barrett1, Matthew E. Hurles1, on behalf of the Deciphering Developmental Disorders study 10 AFFILIATIONS 11 1 Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK 12 2Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS 13 Foundation Trust Manchester Academic Health Sciences Centre 14 3Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester 15 4Sheffield Clinical Genetics Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, 16 Herries Road, Sheffield, S5 7AU 17 5Liverpool Women’s Hospital Foundation Trust, Crown Street, Liverpool, L8 7SS 18 6West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical 19 Genetics, Yorkhill Hospital, Glasgow G3 8SJ, UK 20 7South East Thames Regional Genetics -
Webnetcoffee
Hu et al. BMC Bioinformatics (2018) 19:422 https://doi.org/10.1186/s12859-018-2443-4 SOFTWARE Open Access WebNetCoffee: a web-based application to identify functionally conserved proteins from Multiple PPI networks Jialu Hu1,2, Yiqun Gao1, Junhao He1, Yan Zheng1 and Xuequn Shang1* Abstract Background: The discovery of functionally conserved proteins is a tough and important task in system biology. Global network alignment provides a systematic framework to search for these proteins from multiple protein-protein interaction (PPI) networks. Although there exist many web servers for network alignment, no one allows to perform global multiple network alignment tasks on users’ test datasets. Results: Here, we developed a web server WebNetcoffee based on the algorithm of NetCoffee to search for a global network alignment from multiple networks. To build a series of online test datasets, we manually collected 218,339 proteins, 4,009,541 interactions and many other associated protein annotations from several public databases. All these datasets and alignment results are available for download, which can support users to perform algorithm comparison and downstream analyses. Conclusion: WebNetCoffee provides a versatile, interactive and user-friendly interface for easily running alignment tasks on both online datasets and users’ test datasets, managing submitted jobs and visualizing the alignment results through a web browser. Additionally, our web server also facilitates graphical visualization of induced subnetworks for a given protein and its neighborhood. To the best of our knowledge, it is the first web server that facilitates the performing of global alignment for multiple PPI networks. Availability: http://www.nwpu-bioinformatics.com/WebNetCoffee Keywords: Multiple network alignment, Webserver, PPI networks, Protein databases, Gene ontology Background tools [7–10] have been developed to understand molec- Proteins are involved in almost all life processes. -
In Silico Analysis of Single Nucleotide Polymorphisms
Central JSM Bioinformatics, Genomics and Proteomics Original Research *Corresponding author Anfal Ibrahim Bahereldeen, Department of medical laboratory sciences, Sudan University of Science and In silico analysis of Single Technology, Khartoum, Sudan; Tel: 249916060120; Email: [email protected] Submitted: 14 October 2019 Nucleotide Polymorphisms Accepted: 23 January 2020 Published: 27 January 2020 (SNPs) in Human HFE Gene ISSN: 2576-1102 Copyright coding region © 2020 Bahereldeen AI, et ail. OPEN ACCESS Anfal Ibrahim Bahereldeen1*, Reel Gamal Alfadil2, Hala Mohammed Ali2, Randa Musa Nasser2, Nada Tagelsir Eisa2, Keywords Wesal Hassan Mahmoud2, and Shaymaa Mohammedazeem • In silico • HFE gene, Polyphen-2 2 Osman • I mutant 1Department of Medical laboratory sciences, Sudan University of science and • Project hope Technology, Sudan 2Department of Medical laboratory sciences, Al-Neelain University, Sudan Abstract Background: HFE gene is a HLA class1-like molecule, expressed in the different cells and tissues, mutations on this gene reported to cause about 80-90% of Hereditary haemochromatosis (HHC) and it is increasing the risk of different diseases. In this study; we aimed to analysis the SNPs in HFE gene by using different computational methods. Methodology: We obtained HFE gene nsSNPs from dbSNP/NCBI database, Deleterious nsSNPs predicted by different bioinformatics servers including; SIFT, polyphen-2, I-mutant and SNPs & GO servers. Protein structure analysis done by using Project hope and RaptorX tools then visualized by Chimera software and function, interaction and network of HFE gene analysis done by Gene MANIA program. Results: SIFT and Polyphen-2 servers predicted 75 deleterious nsSNPs and nine polymorphisms from them predicted as highly damaging and disease associated. -
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 -
The Biogrid Interaction Database
D470–D478 Nucleic Acids Research, 2015, Vol. 43, Database issue Published online 26 November 2014 doi: 10.1093/nar/gku1204 The BioGRID interaction database: 2015 update Andrew Chatr-aryamontri1, Bobby-Joe Breitkreutz2, Rose Oughtred3, Lorrie Boucher2, Sven Heinicke3, Daici Chen1, Chris Stark2, Ashton Breitkreutz2, Nadine Kolas2, Lara O’Donnell2, Teresa Reguly2, Julie Nixon4, Lindsay Ramage4, Andrew Winter4, Adnane Sellam5, Christie Chang3, Jodi Hirschman3, Chandra Theesfeld3, Jennifer Rust3, Michael S. Livstone3, Kara Dolinski3 and Mike Tyers1,2,4,* 1Institute for Research in Immunology and Cancer, Universite´ de Montreal,´ Montreal,´ Quebec H3C 3J7, Canada, 2The Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada, 3Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA, 4School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JR, UK and 5Centre Hospitalier de l’UniversiteLaval´ (CHUL), Quebec,´ Quebec´ G1V 4G2, Canada Received September 26, 2014; Revised November 4, 2014; Accepted November 5, 2014 ABSTRACT semi-automated text-mining approaches, and to en- hance curation quality control. The Biological General Repository for Interaction Datasets (BioGRID: http://thebiogrid.org) is an open access database that houses genetic and protein in- INTRODUCTION teractions curated from the primary biomedical lit- Massive increases in high-throughput DNA sequencing erature for all major model organism species and technologies (1) have enabled an unprecedented level of humans. As of September 2014, the BioGRID con- genome annotation for many hundreds of species (2–6), tains 749 912 interactions as drawn from 43 149 pub- which has led to tremendous progress in the understand- lications that represent 30 model organisms. -
Viroinformatics Investigation of B-Cell Epitope Conserved Region in SARS
© 2021 Journal of Pharmacy & Pharmacognosy Research, 9 (6), 766-779, 2021 ISSN 0719-4250 http://jppres.com/jppres Original Article Viroinformatics investigation of B-cell epitope conserved region in SARS- CoV-2 lineage B.1.1.7 isolates originated from Indonesia to develop vaccine candidate against COVID-19 [Investigación viroinformática de la región conservada del epítopo de células B en el linaje SARS-CoV-2 B.1.1.7 aislamientos originados en Indonesia para desarrollar una vacuna candidata contra COVID-19] Arif N. M. Ansori1,2#, Reviany V. Nidom1,3*#, Muhammad K. J. Kusala1,2, Setyarina Indrasari1,3, Irine Normalina1,4, Astria N. Nidom1,3, Balqis Afifah1,3, Kartika B. Sari1,5, Nor L. Ramadhaniyah1,5, Mohammad Y. Alamudi1,3, Umi Cahyaningsih6, Kuncoro P. Santoso1,2, Heri Kuswanto5, Chairul A. Nidom1,2,3* 1Coronavirus and Vaccine Formulation Research Group, Professor Nidom Foundation, Surabaya, Indonesia. 2Faculty of Veterinary Medicine, Universitas Airlangga, Surabaya, Indonesia. 3Riset AIRC Indonesia, Surabaya, Indonesia. 4Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia. 5Faculty of Science and Data Analytics, Institut Teknologi Sepuluh Nopember, Surabaya, Indonesia. 6Faculty of Veterinary Medicine, IPB University, Bogor, Indonesia. #Both authors contributed equally. *E-mail: [email protected], [email protected], [email protected] Abstract Resumen Context: SARS-CoV-2, a member of family Coronaviridae and the Contexto: SARS-CoV-2, un miembro de la familia Coronaviridae y el causative agent of COVID-19, -
Nucleic Acid Databases on the Web Richard Peters and Robert S
© 1996 Nature Publishing Group http://www.nature.com/naturebiotechnology RESOURCES • WWWGUIDE Nucleic acid databases on the Web Richard Peters and Robert S. Sikorski For many researchers, searchable sequence data is The National Center for Biotechnology the Washington University (St. Louis, MO) bases on the Internet are becoming as indis Information (NCBI) site. Some of the things sequencing project. dbSTS is a database of pensable as pipettes. Especially in the fields of you can now find at their site include BLAST, genomic sequence tagged sites that serve as molecular and structural biology, many excel Genbank, Entrez, dbEST, dbSTS, OMIM, mapping landmarks in the human genome. lent online databases have cropped up in just and UniGene. A brief description of each of OMIM (Online Mendelian Inheritance in the past year. Despite this wealth of informa these tools demonstrates what we mean. Man) is a unique database that catalogs cur tion, it still requires considerable effort to sort BLAST is the standard program used for rent research and clinical information about through these myriad databases to find ones querying your DNA or protein sequence individual human genes. UniGene is a subset that are useful. Keeping this in mind, we started against all known sequences housed in data of GenBank that defines a collection of DNA by using our Net search tools to see if we could bases. You can even have the output sent to sequences likely to represent the transcrip winnow out the best of the Net. This month, we you by e-mail. Genbank is an annotated col tion products of distinct genes.