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Ensembl Genomes: Extending Ensembl Across the Taxonomic Space P
Published online 1 November 2009 Nucleic Acids Research, 2010, Vol. 38, Database issue D563–D569 doi:10.1093/nar/gkp871 Ensembl Genomes: Extending Ensembl across the taxonomic space P. J. Kersey*, D. Lawson, E. Birney, P. S. Derwent, M. Haimel, J. Herrero, S. Keenan, A. Kerhornou, G. Koscielny, A. Ka¨ ha¨ ri, R. J. Kinsella, E. Kulesha, U. Maheswari, K. Megy, M. Nuhn, G. Proctor, D. Staines, F. Valentin, A. J. Vilella and A. Yates EMBL-European Bioinformatics Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SD, UK Received August 14, 2009; Revised September 28, 2009; Accepted September 29, 2009 ABSTRACT nucleotide archives; numerous other genomes exist in states of partial assembly and annotation; thousands of Ensembl Genomes (http://www.ensemblgenomes viral genomes sequences have also been generated. .org) is a new portal offering integrated access to Moreover, the increasing use of high-throughput genome-scale data from non-vertebrate species sequencing technologies is rapidly reducing the cost of of scientific interest, developed using the Ensembl genome sequencing, leading to an accelerating rate of genome annotation and visualisation platform. data production. This not only makes it likely that in Ensembl Genomes consists of five sub-portals (for the near future, the genomes of all species of scientific bacteria, protists, fungi, plants and invertebrate interest will be sequenced; but also the genomes of many metazoa) designed to complement the availability individuals, with the possibility of providing accurate and of vertebrate genomes in Ensembl. Many of the sophisticated annotation through the similarly low-cost databases supporting the portal have been built in application of functional assays. -
Abstracts Genome 10K & Genome Science 29 Aug - 1 Sept 2017 Norwich Research Park, Norwich, Uk
Genome 10K c ABSTRACTS GENOME 10K & GENOME SCIENCE 29 AUG - 1 SEPT 2017 NORWICH RESEARCH PARK, NORWICH, UK Genome 10K c 48 KEYNOTE SPEAKERS ............................................................................................................................... 1 Dr Adam Phillippy: Towards the gapless assembly of complete vertebrate genomes .................... 1 Prof Kathy Belov: Saving the Tasmanian devil from extinction ......................................................... 1 Prof Peter Holland: Homeobox genes and animal evolution: from duplication to divergence ........ 2 Dr Hilary Burton: Genomics in healthcare: the challenges of complexity .......................................... 2 INVITED SPEAKERS ................................................................................................................................. 3 Vertebrate Genomics ........................................................................................................................... 3 Alex Cagan: Comparative genomics of animal domestication .......................................................... 3 Plant Genomics .................................................................................................................................... 4 Ksenia Krasileva: Evolution of plant Immune receptors ..................................................................... 4 Andrea Harper: Using Associative Transcriptomics to predict tolerance to ash dieback disease in European ash trees ............................................................................................................ -
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. -
Description of the Biomart Package
Description of the biomaRt package Steffen Durinck‡∗, Wolfgang Huber¶†, Yves Moreau‡, Bart De Moor‡ July 25, 2006 ‡Department of Electronical Engineering, ESAT-SCD, K.U.Leuven, Kasteelpark Arenberg 10, 3001 Leuven-Heverlee, Belgium, http://www.esat.kuleuven.ac.be/~dna/BioI and ¶European Bioinformatics Institute, Hinxton, UK Contents 1 Introduction 2 2 objects 2 2.1 Mart-class..................................... 2 3 Simple biomaRt functions for frequently used queries to Ensembl 3 3.1 Selecting a BioMart database to use . 3 3.1.1 useMart .................................. 3 3.1.2 martDisconnect ............................. 3 3.2 Annotating identifiers with gene information . 4 3.2.1 GOannotation .............................. 6 3.2.2 OMIMannotation ............................ 7 3.2.3 INTERPRO protein domains . 7 3.3 Homologymapping................................ 8 3.4 Identify subsets of genes for further analysis with the getFeature function . 8 3.5 Sequenceinformation............................... 9 3.6 Single Nucleotide Polymorphisms . 9 3.7 Moreexoticfunctions............................... 10 3.7.1 getPossibleXrefs ............................ 10 3.7.2 getXref .................................. 10 ∗Steff[email protected] †[email protected] 1 4 Advanced data retrieval with BioMart API functions 10 4.1 listMarts...................................... 11 4.2 useMart ...................................... 11 4.3 listDatasets .................................... 11 4.4 useDataset..................................... 12 4.5 Filter, Values and Attributes . 12 5 Local BioMart databases 13 1 Introduction The BioConductor biomaRt package provides and API in R to query BioMart databases such as Ensembl (http://www.ensembl.org), a software system which produces and maintains au- tomatic annotation on metazoan genomes. Two sets of functions are currently implemented. A first set of functions is tailored towards Ensembl and are a set of commonly used queries in microarray data analysis. -
Annual Scientific Report 2013 on the Cover Structure 3Fof in the Protein Data Bank, Determined by Laponogov, I
EMBL-European Bioinformatics Institute Annual Scientific Report 2013 On the cover Structure 3fof in the Protein Data Bank, determined by Laponogov, I. et al. (2009) Structural insight into the quinolone-DNA cleavage complex of type IIA topoisomerases. Nature Structural & Molecular Biology 16, 667-669. © 2014 European Molecular Biology Laboratory This publication was produced by the External Relations team at the European Bioinformatics Institute (EMBL-EBI) A digital version of the brochure can be found at www.ebi.ac.uk/about/brochures For more information about EMBL-EBI please contact: [email protected] Contents Introduction & overview 3 Services 8 Genes, genomes and variation 8 Molecular atlas 12 Proteins and protein families 14 Molecular and cellular structures 18 Chemical biology 20 Molecular systems 22 Cross-domain tools and resources 24 Research 26 Support 32 ELIXIR 36 Facts and figures 38 Funding & resource allocation 38 Growth of core resources 40 Collaborations 42 Our staff in 2013 44 Scientific advisory committees 46 Major database collaborations 50 Publications 52 Organisation of EMBL-EBI leadership 61 2013 EMBL-EBI Annual Scientific Report 1 Foreword Welcome to EMBL-EBI’s 2013 Annual Scientific Report. Here we look back on our major achievements during the year, reflecting on the delivery of our world-class services, research, training, industry collaboration and European coordination of life-science data. The past year has been one full of exciting changes, both scientifically and organisationally. We unveiled a new website that helps users explore our resources more seamlessly, saw the publication of ground-breaking work in data storage and synthetic biology, joined the global alliance for global health, built important new relationships with our partners in industry and celebrated the launch of ELIXIR. -
Strategic Plan 2011-2016
Strategic Plan 2011-2016 Wellcome Trust Sanger Institute Strategic Plan 2011-2016 Mission The Wellcome Trust Sanger Institute uses genome sequences to advance understanding of the biology of humans and pathogens in order to improve human health. -i- Wellcome Trust Sanger Institute Strategic Plan 2011-2016 - ii - Wellcome Trust Sanger Institute Strategic Plan 2011-2016 CONTENTS Foreword ....................................................................................................................................1 Overview .....................................................................................................................................2 1. History and philosophy ............................................................................................................ 5 2. Organisation of the science ..................................................................................................... 5 3. Developments in the scientific portfolio ................................................................................... 7 4. Summary of the Scientific Programmes 2011 – 2016 .............................................................. 8 4.1 Cancer Genetics and Genomics ................................................................................ 8 4.2 Human Genetics ...................................................................................................... 10 4.3 Pathogen Variation .................................................................................................. 13 4.4 Malaria -
Browsing Genomes with Ensembl Annotation
Browsing genomes with EnsEMBL Annotation • During recent years release of large amounts of sequence data • Raw sequence data are not so useful on its own. They are most valuable when provided with comprehensive good quality annotation CCCAACAAGAATGTAAAATCTTTAAGTGCCTGTTTTCATACTTATTTGACCACCCTATCTCTAGAATCTTGCATGATG TCTAGCCCTAGTAGGATCAAAAAATACTTACAAAGCAACTGAATAGCTACATGAATAGATGGATGAATAAATGCATG GGTGGATGGATGGATTAATGAAATCATTTATATGACTTAAAGTTTGCAGAGGAGTATCATATTTGGAAGGCAGTAAG GAAGTCTGTGTAGTCGATGGTAAAGGCAATTGGGAAGTTTGTTAGGCACAATAGGTCAAAATTTGTTTTTGAAGTCC TGTTACTTCACGTTTCTTTGTTTCACTTTCTTAAAACAGGAAACTCTTTTCTATGATCATTCTTCCAGGGCCTGGCTCT TCATCTGCAACCCAGTAATATCCCTAATGTCAAAAAGCTACTGGTTTAATTCGTGCCATTTTCAAAGAGGACTACTGA ATTCTGATGTGGCTTCAAACATTTAGGTTAGGCATATCTAATGGAGAACTTGCAGCCACACTGACTTGTAGTGAAAT ATCTATTTTGAGCCTGCCCAGTGTTGCTTAAATTGTAGTTTTCCTTGCCAGCTATTCATACAAGAGATGTGAGAAGCA CCATAAAAGGCGTTGTGAGGAGTTGTGGGGGAGTGAGGGAGAGAAGAGGTTGAAAAGCTTATTAGCTGCTGTACGG TAAAAGTGAGCTCTTACGGGAATGGGAATGTAGTTTTAGCCCTCCAGGGATTCTATTTAGCCCGCCAGGAATTAACC TTGACTATAAATAGGCCATCAATGACCTTTCCAGAGAATGTTCAGAGACCTCAACTTTGTTTAGAGATCTTGTGTGGG TGGAACTTCCTGTTTGCACACAGAGCAGCATAAAGCCCAGTTGCTTTGGGAAGTGTTTGGGACCAGATGGATTGTAG GGAGTAGGGTACAATACAGTCTGTTCTCCTCCAGCTCCTTCTTTCTGCAACATGGGGAAGAACAAACTCCTTCATCC AAGTCTGGTTCTTCTCCTCTTGGTCCTCCTGCCCACAGACGCCTCAGTCTCTGGAAAACCGTGAGTTCCACACAGAG AGCGTGAAGCATGAACCTAGAGTCCTTCATTTATTGCAGATTTTTCTTTATATCATTCCTTTTTCTTTCCTATGATACT GTCATCTTCTTATCTCTAAGATTCCTTCCAGATTTTACAAATCTAGTTTACTCATTACTTGCTTACTTTTAATCATTCT TCCCCAACTCTCTGAAGCTCTAATATGCAAAGCCTTCCTAAGGGGTGTCAGAAATTTTTAGCTTTTTAAAAGAATAAA -
The Genomic Basis of Circadian and Circalunar Timing Adaptations in a Midge Tobias S
OPEN ARTICLE doi:10.1038/nature20151 The genomic basis of circadian and circalunar timing adaptations in a midge Tobias S. Kaiser1,2,3†, Birgit Poehn1,3, David Szkiba2, Marco Preussner4, Fritz J. Sedlazeck2†, Alexander Zrim2, Tobias Neumann1,2, Lam-Tung Nguyen2,5, Andrea J. Betancourt6, Thomas Hummel3,7, Heiko Vogel8, Silke Dorner1, Florian Heyd4, Arndt von Haeseler2,3,5 & Kristin Tessmar-Raible1,3 Organisms use endogenous clocks to anticipate regular environmental cycles, such as days and tides. Natural variants resulting in differently timed behaviour or physiology, known as chronotypes in humans, have not been well characterized at the molecular level. We sequenced the genome of Clunio marinus, a marine midge whose reproduction is timed by circadian and circalunar clocks. Midges from different locations show strain-specific genetic timing adaptations. We examined genetic variation in five C. marinus strains from different locations and mapped quantitative trait loci for circalunar and circadian chronotypes. The region most strongly associated with circadian chronotypes generates strain-specific differences in the abundance of calcium/calmodulin-dependent kinase II.1 (CaMKII.1) splice variants. As equivalent variants were shown to alter CaMKII activity in Drosophila melanogaster, and C. marinus (Cma)-CaMKII.1 increases the transcriptional activity of the dimer of the circadian proteins Cma-CLOCK and Cma-CYCLE, we suggest that modulation of alternative splicing is a mechanism for natural adaptation in circadian timing. Around the new or full moon, during a few specific hours surround- Our study aimed to identify the genetic basis of C. marinus adaptation ing low tide, millions of non-biting midges of the species C. -
ALEXA: a Microarray Design Platform for Alternative Expression Analysis
CORRESPONDENCE expression of alternative mRNA isoforms in 5-fluorouracil (5-FU)- ALEXA: a microarray design platform for sensitive and resistant colorectal cancer cell lines5 and compared alternative expression analysis the results to those from the Affymetrix ‘GeneChip Human Exon 1.0 ST’ array (see Supplementary Results, Supplementary Fig. 2 To the editor: Eukaryotic genomes are predicted to contain about and Supplementary Table 2 online). Genes and exons differentially 7,000–29,000 genes1. Each of these genes may be alternatively expressed between 5-FU–sensitive and resistant cells were identi- processed to produce multiple distinct mRNAs by alternative fied by both platforms (with significant overlap), but ALEXA arrays transcript initiation, splicing and polyadenylation (collectively provided additional information on the connectivity and boundar- referred to as alternative expression). Although analysis of avail- ies of exons (Table 1). Furthermore, alternative expression events able transcript resources indicates that up to ~75% of genes are identified by ALEXA were significantly enriched for known alterna- alternatively processed, most microarray expression platforms tive expression events represented in publicly available mRNA and cannot detect alternative transcripts2. expressed sequence tag (EST) databases (Supplementary Results methods Proof-of-principle experiments have described the use of oli- and Supplementary Data 1 online). Finally, we demonstrated the gonucleotide microarrays to profile transcript isoforms gener- advantage of the ALEXA approach by identifying several differen- ated by alternative expression, but resources to create such arrays tially expressed known and predicted isoforms with potential rele- are lacking3,4. To address this limitation we created a microarray vance to 5-FU resistance (Supplementary Fig. 3 and Supplementary .com/nature e design platform for alternative expression analysis (ALEXA), Tables 3 and 4 online). -
The Biomart User's Guide
The biomaRt user's guide Steffen Durinck,∗ Wolfgang Hubery September 15, 2015 Contents 1 Introduction 2 2 Selecting a BioMart database and dataset 3 3 How to build a biomaRt query 7 4 Examples of biomaRt queries 9 4.1 Task 1: Annotate a set of Affymetrix identifiers with HUGO symbol and chromosomal locations of corresponding genes . 9 4.2 Task 2: Annotate a set of EntrezGene identifiers with GO annotation . 9 4.3 Task 3: Retrieve all HUGO gene symbols of genes that are located on chromosomes 17,20 or Y , and are associated with one the following GO terms: "GO:0051330","GO:0000080","GO:0000114","GO:0000082" (here we'll use more than one filter) . 10 4.4 Task 4: Annotate set of idenfiers with INTERPRO protein domain identifiers . 10 4.5 Task 5: Select all Affymetrix identifiers on the hgu133plus2 chip and Ensembl gene identifiers for genes located on chro- mosome 16 between basepair 1100000 and 1250000. 11 4.6 Task 6: Retrieve all entrezgene identifiers and HUGO gene symbols of genes which have a "MAP kinase activity" GO term associated with it. 11 ∗[email protected] [email protected] 1 4.7 Task 7: Given a set of EntrezGene identifiers, retrieve 100bp upstream promoter sequences . 12 4.8 Task 8: Retrieve all 5' UTR sequences of all genes that are located on chromosome 3 between the positions 185514033 and 185535839 . 13 4.9 Task 9: Retrieve protein sequences for a given list of Entrez- Gene identifiers . 13 4.10 Task 10: Retrieve known SNPs located on the human chro- mosome 8 between positions 148350 and 148612 . -
Gene3d: Multi-Domain Annotations for Protein Sequence and Comparative Genome Analysis Jonathan G
D240–D245 Nucleic Acids Research, 2014, Vol. 42, Database issue Published online 21 November 2013 doi:10.1093/nar/gkt1205 Gene3D: Multi-domain annotations for protein sequence and comparative genome analysis Jonathan G. Lees1,*, David Lee1, Romain A. Studer1, Natalie L. Dawson1, Ian Sillitoe1, Sayoni Das1, Corin Yeats2, Benoit H. Dessailly1, Robert Rentzsch3 and Christine A. Orengo1 1Division of Biosciences, Institute of Structural and Molecular Biology, University College London, Gower Street, London WC1E 6BT, UK, 2Department of Infectious Disease Epidemiology, Imperial College London, St Mary’s Campus, Norfolk Place, London W2 1PG, UK and 3Robert Koch Institut, Research Group Bioinformatics Ng4, Nordufer 20, 13353 Berlin, Germany Received October 1, 2013; Revised November 2, 2013; Accepted November 4, 2013 Downloaded from ABSTRACT contain long disordered sections that are also of functional importance. The CATH database which focuses on the Gene3D (http://gene3d.biochem.ucl.ac.uk) is a data- folded domain, classifies structures in the PDB into their base of protein domain structure annotations for constituent domains, and each domain is subsequently http://nar.oxfordjournals.org/ protein sequences. Domains are predicted using a assigned to a single superfamily by homology (1,2). The library of profile HMMs from 2738 CATH super- classified domain structure sequences are used in a families. Gene3D assigns domain annotations to pipeline to build domain superfamily specific HMMs that Ensembl and UniProt sequence sets including are then used to identify domains in structurally >6000 cellular genomes and >20 million unique uncharacterized protein sequences. As some CATH protein sequences. This represents an increase of superfamilies can be large and functionally diverse, we 45% in the number of protein sequences since our recently introduced protocols for subdividing each super- last publication. -
What's New in Rnacentral and Rfam
What’s new in RNAcentral and Rfam Anton Petrov [email protected] Benasque - July 20, 2018 What is https://www.vecteezy.com/vector-art/92726-question-mark-background-vector The non-coding RNA sequence database rnacentral.org • >10 million sequences • 27 databases • 800,000 species RNAcentral has lots of useful data • Sequence • Description • RNA type • Links to other databases • Genome locations • Publications • RNA modifications from MODOMICS and PDB http://rnacentral.org/rna/URS00005A4DCF/9606 Until recently just data aggregation, now additional analysis Two important new features 1. Quality control using Rfam 2. Comprehensive genome models mapping 1. Rfam models are used to annotate RNAcentral • ~90% of RNAcentral sequences match Rfam models • about 2% of RNAcentral sequences can be used to build new Rfam models Rfam annotations help detect: • truncated sequences • potential contamination • missing annotations 2. Comprehensive genome mapping for >250 species before after • genome mapping Ensembl genomes and blat • >95% of sequences mapped for human, mouse, and other key species • one of the largest collections RNA types of ncRNA genome annotations % of mapped human sequences Example of Rfam quality control and genome mapping Here is an Ensembl miRNA http://www.ensembl.org/Mus_musculus/Transcript/Summary?g=ENSMUSG00000106355;r=4:10874064-10874170;t =ENSMUST00000197675 But is it a miRNA or a tRNA? http://www.ensembl.org/Mus_musculus/Transcript/Summary?g=ENSMUSG00000106355;r=4:10874064-10874170;t =ENSMUST00000197675 RNAcentral shows a