Biohackathon Series in 2013 and 2014
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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. -
Toolboxes for a Standardised and Systematic Study of Glycans
Campbell et al. BMC Bioinformatics 2014, 15(Suppl 1):S9 http://www.biomedcentral.com/1471-2105/15/S1/S9 RESEARCH Open Access Toolboxes for a standardised and systematic study of glycans Matthew P Campbell1, René Ranzinger2, Thomas Lütteke3, Julien Mariethoz4, Catherine A Hayes5, Jingyu Zhang1, Yukie Akune6, Kiyoko F Aoki-Kinoshita6, David Damerell7,11, Giorgio Carta8, Will S York2, Stuart M Haslam7, Hisashi Narimatsu9, Pauline M Rudd8, Niclas G Karlsson4, Nicolle H Packer1, Frédérique Lisacek4,10* From Integrated Bio-Search: 12th International Workshop on Network Tools and Applications in Biology (NETTAB 2012) Como, Italy. 14-16 November 2012 Abstract Background: Recent progress in method development for characterising the branched structures of complex carbohydrates has now enabled higher throughput technology. Automation of structure analysis then calls for software development since adding meaning to large data collections in reasonable time requires corresponding bioinformatics methods and tools. Current glycobioinformatics resources do cover information on the structure and function of glycans, their interaction with proteins or their enzymatic synthesis. However, this information is partial, scattered and often difficult to find to for non-glycobiologists. Methods: Following our diagnosis of the causes of the slow development of glycobioinformatics, we review the “objective” difficulties encountered in defining adequate formats for representing complex entities and developing efficient analysis software. Results: Various solutions already implemented and strategies defined to bridge glycobiology with different fields and integrate the heterogeneous glyco-related information are presented. Conclusions: Despite the initial stage of our integrative efforts, this paper highlights the rapid expansion of glycomics, the validity of existing resources and the bright future of glycobioinformatics. -
The Variant Call Format Specification Vcfv4.3 and Bcfv2.2
The Variant Call Format Specification VCFv4.3 and BCFv2.2 27 Jul 2021 The master version of this document can be found at https://github.com/samtools/hts-specs. This printing is version 1715701 from that repository, last modified on the date shown above. 1 Contents 1 The VCF specification 4 1.1 An example . .4 1.2 Character encoding, non-printable characters and characters with special meaning . .4 1.3 Data types . .4 1.4 Meta-information lines . .5 1.4.1 File format . .5 1.4.2 Information field format . .5 1.4.3 Filter field format . .5 1.4.4 Individual format field format . .6 1.4.5 Alternative allele field format . .6 1.4.6 Assembly field format . .6 1.4.7 Contig field format . .6 1.4.8 Sample field format . .7 1.4.9 Pedigree field format . .7 1.5 Header line syntax . .7 1.6 Data lines . .7 1.6.1 Fixed fields . .7 1.6.2 Genotype fields . .9 2 Understanding the VCF format and the haplotype representation 11 2.1 VCF tag naming conventions . 12 3 INFO keys used for structural variants 12 4 FORMAT keys used for structural variants 13 5 Representing variation in VCF records 13 5.1 Creating VCF entries for SNPs and small indels . 13 5.1.1 Example 1 . 13 5.1.2 Example 2 . 14 5.1.3 Example 3 . 14 5.2 Decoding VCF entries for SNPs and small indels . 14 5.2.1 SNP VCF record . 14 5.2.2 Insertion VCF record . -
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 -
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). -
A Combined RAD-Seq and WGS Approach Reveals the Genomic
www.nature.com/scientificreports OPEN A combined RAD‑Seq and WGS approach reveals the genomic basis of yellow color variation in bumble bee Bombus terrestris Sarthok Rasique Rahman1,2, Jonathan Cnaani3, Lisa N. Kinch4, Nick V. Grishin4 & Heather M. Hines1,5* Bumble bees exhibit exceptional diversity in their segmental body coloration largely as a result of mimicry. In this study we sought to discover genes involved in this variation through studying a lab‑generated mutant in bumble bee Bombus terrestris, in which the typical black coloration of the pleuron, scutellum, and frst metasomal tergite is replaced by yellow, a color variant also found in sister lineages to B. terrestris. Utilizing a combination of RAD‑Seq and whole‑genome re‑sequencing, we localized the color‑generating variant to a single SNP in the protein‑coding sequence of transcription factor cut. This mutation generates an amino acid change that modifes the conformation of a coiled‑coil structure outside DNA‑binding domains. We found that all sequenced Hymenoptera, including sister lineages, possess the non‑mutant allele, indicating diferent mechanisms are involved in the same color transition in nature. Cut is important for multiple facets of development, yet this mutation generated no noticeable external phenotypic efects outside of setal characteristics. Reproductive capacity was reduced, however, as queens were less likely to mate and produce female ofspring, exhibiting behavior similar to that of workers. Our research implicates a novel developmental player in pigmentation, and potentially caste, thus contributing to a better understanding of the evolution of diversity in both of these processes. Understanding the genetic architecture underlying phenotypic diversifcation has been a long-standing goal of evolutionary biology. -
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. -
VCF/Plotein: a Web Application to Facilitate the Clinical Interpretation Of
bioRxiv preprint doi: https://doi.org/10.1101/466490; this version posted November 14, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Manuscript (All Manuscript Text Pages, including Title Page, References and Figure Legends) VCF/Plotein: A web application to facilitate the clinical interpretation of genetic and genomic variants from exome sequencing projects Raul Ossio MD1, Diego Said Anaya-Mancilla BSc1, O. Isaac Garcia-Salinas BSc1, Jair S. Garcia-Sotelo MSc1, Luis A. Aguilar MSc1, David J. Adams PhD2 and Carla Daniela Robles-Espinoza PhD1,2* 1Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Qro., 76230, Mexico 2Experimental Cancer Genetics, Wellcome Sanger Institute, Hinxton Cambridge, CB10 1SA, UK * To whom correspondence should be addressed. Carla Daniela Robles-Espinoza Tel: +52 55 56 23 43 31 ext. 259 Email: [email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/466490; this version posted November 14, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. CONFLICT OF INTEREST No conflicts of interest. 2 bioRxiv preprint doi: https://doi.org/10.1101/466490; this version posted November 14, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. ABSTRACT Purpose To create a user-friendly web application that allows researchers, medical professionals and patients to easily and securely view, filter and interact with human exome sequencing data in the Variant Call Format (VCF). -
PROGRAM and ABSTRACTS for 2020 ANNUAL MEETING of the SOCIETY for GLYCOBIOLOGY November 9–12, 2020 Phoenix, AZ, USA 1017 2020 Sfg Virtual Meeting Preliminary Schedule
Downloaded from https://academic.oup.com/glycob/article/30/12/1016/5948902 by guest on 25 January 2021 PROGRAM AND ABSTRACTS FOR 2020 ANNUAL MEETING OF THE SOCIETY FOR GLYCOBIOLOGY November 9–12, 2020 Phoenix, AZ, USA 1017 2020 SfG Virtual Meeting Preliminary Schedule Mon. Nov 9 (Day 1) TOKYO ROME PACIFIC EASTERN EASTERN SESSION TIME TIME TIME START END TIME TIME 23:30 15:30 6:30 9:30 9:50 Welcome and Introduction - Michael Tiemeyer, CCRC UGA Downloaded from https://academic.oup.com/glycob/article/30/12/1016/5948902 by guest on 25 January 2021 23:30 15:30 6:30 9:50 – 12:36 Session 1: Glycobiology of Normal and Disordered Development | Chair: Kelly Ten-Hagen, NIH/NIDCR 23:50 15:50 6:50 9:50 10:10 KEYNOTE: “POGLUT1 mutations cause myopathy with reduced Notch signaling and α-dystroglycan hypoglycosylation” - Carmen Paradas Lopez, Biomedical Institute Sevilla 0:12 16:12 7:12 10:12 10:24 Poster Talk: “Regulation of Notch signaling by O-glycans in the intestine” – Mohd Nauman, Albert Einstein 0:26 16:26 7:26 10:26 10:38 Poster Talk: “Generation of an unbiased interactome for the tetratricopeptide repeat domain of the O-GlcNAc transferase indicates a role for the enzyme in intellectual disability” – Hannah Stephen, University of Georgia 0:40 16:30 7:30 10:40 10:50 Q&A 10:52 11:12 7:52 10:52 11:12 KEYNOTE: “Aberrations in N-cadherin Processing Drive PMM2-CDG Pathogenesis” - Heather Flanagan-Steet, Greenwood Genetics Center 1:14 11:26 8:14 11:14 11:26 Poster Talk: “Functional analyses of TMTC-type protein O-mannosyltransferases in Drosophila model -
The Transcriptional Landscape and Hub Genes Associated with Physiological Responses to Drought Stress in Pinus Tabuliformis
International Journal of Molecular Sciences Article The Transcriptional Landscape and Hub Genes Associated with Physiological Responses to Drought Stress in Pinus tabuliformis Tariq Pervaiz 1,† , Shuang-Wei Liu 1,†, Saleem Uddin 1 , Muhammad Waqas Amjid 2 , Shi-Hui Niu 1,* and Harry X. Wu 1,3,4,* 1 Beijing Advanced Innovation Center for Tree Breeding by Molecular Design, National Engineering Laboratory for Tree Breeding, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China; [email protected] (T.P.); [email protected] (S.-W.L.); [email protected] (S.U.) 2 State Key Laboratory of Crop Genetics and Germplasm Enhancement, Cotton Germplasm Enhancement and Application Engineering Research Center (Ministry of Education), Nanjing Agricultural University, Nanjing 210095, China; [email protected] 3 Umea Plant Science Centre, Department of Forest Genetics and Plant Physiology, Swedish University of Agricultural Sciences, Linnaeus vag 6, SE-901 83 Umea, Sweden 4 CSIRO National Research Collection Australia, Black Mountain Laboratory, Canberra, ACT 2601, Australia * Correspondence: [email protected] (S.-H.N.); [email protected] (H.X.W.) † These authors contributed equally. Abstract: Drought stress has an extensive impact on regulating various physiological, metabolic, and molecular responses. In the present study, the Pinus tabuliformis transcriptome was studied to Citation: Pervaiz, T.; Liu, S.-W.; evaluate the drought-responsive genes using RNA- Sequencing approache. The results depicted Uddin, S.; Amjid, M.W.; Niu, S.-H.; that photosynthetic rate and H2O conductance started to decline under drought but recovered 24 h Wu, H.X. The Transcriptional after re-watering; however, the intercellular CO2 concentration (Ci) increased with the onset of Landscape and Hub Genes drought. -
Supplementary Methods
Supplementary methods Somatic mutation and gene expression data This section describes the somatic mutation and gene expression data used in our pathway and network analysis. Gene-level mutation data Pathway and network databases record interactions at the gene or protein level. Therefore, we combine somatic mutation data for coding and non-coding elements into gene-level scores using the following procedure. P-values from the PCAWG-2-5-9-14 analysis summarize the statistical significance of somatic mutations on these regions. For each gene, we use Fisher’s method to combine P-values for multiple regions that are associated to the gene to create three gene scores: (1) a coding gene score (GS-C); (2) a non-coding (promoter, 5’ UTR, 3’ UTR, and enhancer) gene score (GS-N); and (3) a combined coding-and-non-coding (coding, promoter, 5’ UTR, 3’ UTR, and enhancer) gene score (GS-CN). Mutation data We obtained and processed two sources of somatic mutation data on various coding and non- coding regions associated with one or more genes: (1) binary mutation data that describe the presence or absence of mutations in a region for each sample in a tumor cohort and (2) integrated driver score P-values that describe the statistical significance of mutations in a region across samples in a cohort. 1. For binary mutation data we used the following procedure: a. We obtained somatic mutations from the PCAWG MAF (syn7364923). b. We retained mutations in a pan-cancer tumor cohort that excludes samples from the lymphoma and melanoma tumor cohorts, i.e., the Lymph-BNHL, Lymph-CLL, Lymph-NOS, and Skin-Melanoma cohorts, as well as 69 hypermutated samples with over 30 mutations/MB, which are listed by donor (syn7894281) or aliquot ID (syn7814911). -
The Draft Genomes of Softshell Turtle and Green Sea Turtle Yield Insights
LETTERS OPEN The draft genomes of soft-shell turtle and green sea turtle yield insights into the development and evolution of the turtle-specific body plan Zhuo Wang1,12, Juan Pascual-Anaya2,12, Amonida Zadissa3,12, Wenqi Li4,12, Yoshihito Niimura5, Zhiyong Huang1, Chunyi Li4, Simon White3, Zhiqiang Xiong1, Dongming Fang1, Bo Wang1, Yao Ming1, Yan Chen1, Yuan Zheng1, Shigehiro Kuraku2, Miguel Pignatelli6, Javier Herrero6, Kathryn Beal6, Masafumi Nozawa7, Qiye Li1, Juan Wang1, Hongyan Zhang4, Lili Yu1, Shuji Shigenobu7, Junyi Wang1, Jiannan Liu4, Paul Flicek6, Steve Searle3, Jun Wang1,8,9, Shigeru Kuratani2, Ye Yin4, Bronwen Aken3, Guojie Zhang1,10,11 & Naoki Irie2 The unique anatomical features of turtles have raised Three major hypotheses have been proposed for the evolutionary unanswered questions about the origin of their unique body origin of turtles, including that they (i) constitute early-diverged rep- plan. We generated and analyzed draft genomes of the soft- tiles, called anapsids3, (ii) are a sister group of the lizard-snake-tuatara shell turtle (Pelodiscus sinensis) and the green sea turtle (Lepidosauria) clade4 or (iii) are closely related to a lineage that (Chelonia mydas); our results indicated the close relationship includes crocodilians and birds (Archosauria)5–8. Even using molecular of the turtles to the bird-crocodilian lineage, from which they approaches, inconsistency still remains6–9. To clarify the evolution of split ~267.9–248.3 million years ago (Upper Permian to Triassic). the turtle-specific body plan, we first addressed the question of evolu- We also found extensive expansion of olfactory receptor genes tionary origin of the turtle by performing the first genome-wide phylo- in these turtles.