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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. -
Analysis of Trans Esnps Infers Regulatory Network Architecture
Analysis of trans eSNPs infers regulatory network architecture Anat Kreimer Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Graduate School of Arts and Sciences COLUMBIA UNIVERSITY 2014 © 2014 Anat Kreimer All rights reserved ABSTRACT Analysis of trans eSNPs infers regulatory network architecture Anat Kreimer eSNPs are genetic variants associated with transcript expression levels. The characteristics of such variants highlight their importance and present a unique opportunity for studying gene regulation. eSNPs affect most genes and their cell type specificity can shed light on different processes that are activated in each cell. They can identify functional variants by connecting SNPs that are implicated in disease to a molecular mechanism. Examining eSNPs that are associated with distal genes can provide insights regarding the inference of regulatory networks but also presents challenges due to the high statistical burden of multiple testing. Such association studies allow: simultaneous investigation of many gene expression phenotypes without assuming any prior knowledge and identification of unknown regulators of gene expression while uncovering directionality. This thesis will focus on such distal eSNPs to map regulatory interactions between different loci and expose the architecture of the regulatory network defined by such interactions. We develop novel computational approaches and apply them to genetics-genomics data in human. We go beyond pairwise interactions to define network motifs, including regulatory modules and bi-fan structures, showing them to be prevalent in real data and exposing distinct attributes of such arrangements. We project eSNP associations onto a protein-protein interaction network to expose topological properties of eSNPs and their targets and highlight different modes of distal regulation. -
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 -
Gene Discovery and Annotation Using LCM-454 Transcriptome Sequencing Scott J
Downloaded from genome.cshlp.org on September 23, 2021 - Published by Cold Spring Harbor Laboratory Press Methods Gene discovery and annotation using LCM-454 transcriptome sequencing Scott J. Emrich,1,2,6 W. Brad Barbazuk,3,6 Li Li,4 and Patrick S. Schnable1,4,5,7 1Bioinformatics and Computational Biology Graduate Program, Iowa State University, Ames, Iowa 50010, USA; 2Department of Electrical and Computer Engineering, Iowa State University, Ames, Iowa 50010, USA; 3Donald Danforth Plant Science Center, St. Louis, Missouri 63132, USA; 4Interdepartmental Plant Physiology Graduate Major and Department of Genetics, Development, and Cell Biology, Iowa State University, Ames, Iowa 50010, USA; 5Department of Agronomy and Center for Plant Genomics, Iowa State University, Ames, Iowa 50010, USA 454 DNA sequencing technology achieves significant throughput relative to traditional approaches. More than 261,000 ESTs were generated by 454 Life Sciences from cDNA isolated using laser capture microdissection (LCM) from the developmentally important shoot apical meristem (SAM) of maize (Zea mays L.). This single sequencing run annotated >25,000 maize genomic sequences and also captured ∼400 expressed transcripts for which homologous sequences have not yet been identified in other species. Approximately 70% of the ESTs generated in this study had not been captured during a previous EST project conducted using a cDNA library constructed from hand-dissected apex tissue that is highly enriched for SAMs. In addition, at least 30% of the 454-ESTs do not align to any of the ∼648,000 extant maize ESTs using conservative alignment criteria. These results indicate that the combination of LCM and the deep sequencing possible with 454 technology enriches for SAM transcripts not present in current EST collections. -
Rare Variant Contribution to Human Disease in 281,104 UK Biobank Exomes W 1,19 1,19 2,19 2 2 Quanli Wang , Ryan S
https://doi.org/10.1038/s41586-021-03855-y Accelerated Article Preview Rare variant contribution to human disease W in 281,104 UK Biobank exomes E VI Received: 3 November 2020 Quanli Wang, Ryan S. Dhindsa, Keren Carss, Andrew R. Harper, Abhishek N ag, I oa nn a Tachmazidou, Dimitrios Vitsios, Sri V. V. Deevi, Alex Mackay, EDaniel Muthas, Accepted: 28 July 2021 Michael Hühn, Sue Monkley, Henric O ls so n , S eb astian Wasilewski, Katherine R. Smith, Accelerated Article Preview Published Ruth March, Adam Platt, Carolina Haefliger & Slavé PetrovskiR online 10 August 2021 P Cite this article as: Wang, Q. et al. Rare variant This is a PDF fle of a peer-reviewed paper that has been accepted for publication. contribution to human disease in 281,104 UK Biobank exomes. Nature https:// Although unedited, the content has been subjectedE to preliminary formatting. Nature doi.org/10.1038/s41586-021-03855-y (2021). is providing this early version of the typeset paper as a service to our authors and Open access readers. The text and fgures will undergoL copyediting and a proof review before the paper is published in its fnal form. Please note that during the production process errors may be discovered which Ccould afect the content, and all legal disclaimers apply. TI R A D E T A R E L E C C A Nature | www.nature.com Article Rare variant contribution to human disease in 281,104 UK Biobank exomes W 1,19 1,19 2,19 2 2 https://doi.org/10.1038/s41586-021-03855-y Quanli Wang , Ryan S. -
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 Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated. -
Volume 21 Supplement a December 2015 Next
EMBnet.journal Volume 21 Supplement A December 2015 Next Generation Sequencing: a look into the future Final Conference & MC Meeting of COST Action BM1006 16-17 March 2015 Bratislava, Slovakia http://seqahead.eu/bratislava_2015 ESF provides COST is supported the Cost Office by the EU RTD through an EC Framework contract Programme EDITORIAL/CONTENT EMBnet.journal 21.A Editorial Contents The key task of COST Action BM1006, SeqAhead, Editorial ..............................................................2 Next Generation Sequencing (NGS) Data Analysis COST Action BM1006 (SeqAhead) closing Network, was, as its name suggests, networking; conference ........................................................3 but SeqAhead also emphasised the dissemina- Scientific Programme.........................................5 tion of knowledge. During the four years of the Keynote Lectures ................................................9 Action, SeqAhead surpassed every expectation: Oral Presentations ........................................... 13 with members participating from 29 European Posters.......................................................................25 countries, plus one international partner from South Africa, the Management Committee mem- bership reads like a “who’s-who” of European NGS research. This EMBnet.journal Conference Supplement clearly shows that during the four years of SeqAhead’s existence, the Action members ac- tively shared software and experiences, and col- laborated in numerous projects spanning diverse EMBnet.journal -
And Short‐Term Outcomes in Renal Allografts with Deceased Donors
Received: 30 May 2017 | Revised: 28 October 2017 | Accepted: 13 November 2017 DOI: 10.1111/ajt.14594 ORIGINAL ARTICLE Long- and short- term outcomes in renal allografts with deceased donors: A large recipient and donor genome- wide association study Maria P. Hernandez-Fuentes1 | Christopher Franklin2 | Irene Rebollo-Mesa1 | Jennifer Mollon1,33 | Florence Delaney1,3 | Esperanza Perucha1 | Caragh Stapleton6 | Richard Borrows4 | Catherine Byrne5 | Gianpiero Cavalleri6 | Brendan Clarke7 | Menna Clatworthy8 | John Feehally9 | Susan Fuggle10 | Sarah A. Gagliano11 | Sian Griffin12 | Abdul Hammad13 | Robert Higgins14 | Alan Jardine15 | Mary Keogan31 | Timothy Leach16 | Iain MacPhee17 | Patrick B. Mark15 | James Marsh18 | Peter Maxwell19 | William McKane20 | Adam McLean21 | Charles Newstead22 | Titus Augustine23 | Paul Phelan24 | Steve Powis25 | Peter Rowe26 | Neil Sheerin27 | Ellen Solomon28 | Henry Stephens24 | Raj Thuraisingham29 | Richard Trembath28 | Peter Topham9 | Robert Vaughan30 | Steven H. Sacks1,3 | Peter Conlon6,31 | Gerhard Opelz32 | Nicole Soranzo2,33 | Michael E. Weale28 | Graham M. Lord1,3 | for the United Kingdom and Ireland Renal Transplant Consortium (UKIRTC) and the Wellcome Trust Case Control Consortium (WTCCC)-3 1King’s College London, MRC Centre for Transplantation, London, UK 2Welcome Trust Sanger Institute, Human Genetics, Cambridge, UK 3NIHR Biomedical Research Centre at Guy’s and St Thomas’, NHS Foundation Trust and King’s College London, London, UK 4Renal Institute of Birmingham, Department of Nephrology and Transplantation, -
From Genes to Genomes: Botanic Gardens Embracing New Tools for Conservation and Research Volume 18 • Number 1
Journal of Botanic Gardens Conservation International Volume 18 • Number 1 • February 2021 From genes to genomes: botanic gardens embracing new tools for conservation and research Volume 18 • Number 1 IN THIS ISSUE... EDITORS Suzanne Sharrock EDITORIAL: Director of Global Programmes FROM GENES TO GENOMES: BOTANIC GARDENS EMBRACING NEW TOOLS FOR CONSERVATION AND RESEARCH .... 03 Morgan Gostel Research Botanist, FEATURES Fort Worth Botanic Garden Botanical Research Institute of Texas and Director, GGI-Gardens NEWS FROM BGCI .... 06 Jean Linksy FEATURED GARDEN: THE NORTHWESTERN UNIVERSITY Magnolia Consortium Coordinator, ECOLOGICAL PARK & BOTANIC GARDENS .... 09 Atlanta Botanical Garden PLANT HUNTING TALES: GARDENS AND THEIR LESSONS: THE JOURNAL OF A BOTANY STUDENT Farahnoz Khojayori .... 13 Cover Photo: Young and aspiring scientists assist career scientists in sampling plants at the U.S. Botanic Garden for TALKING PLANTS: JONATHAN CODDINGTON, the Global Genome Initiative (U.S. Botanic Garden). DIRECTOR OF THE GLOBAL GENOME INITIATIVE .... 16 Design: Seascape www.seascapedesign.co.uk BGjournal is published by Botanic Gardens Conservation International (BGCI). It is published twice a year. Membership is open to all interested individuals, institutions and organisations that support the aims of BGCI. Further details available from: ARTICLES • Botanic Gardens Conservation International, Descanso House, 199 Kew Road, Richmond, Surrey TW9 3BW UK. Tel: +44 (0)20 8332 5953, Fax: +44 (0)20 8332 5956, E-mail: [email protected], www.bgci.org BANKING BOTANICAL BIODIVERSITY WITH THE GLOBAL GENOME • BGCI (US) Inc, The Huntington Library, BIODIVERSITY NETWORK (GGBN) Art Collections and Botanical Gardens, Ole Seberg, Gabi Dröge, Jonathan Coddington and Katharine Barker .... 19 1151 Oxford Rd, San Marino, CA 91108, USA. -
A Genome-Wide Meta-Analysis Yields 46 New Loci Associating with Biomarkers of Iron Homeostasis
A Genome-Wide Meta-Analysis Yields 46 New Loci Associating with Biomarkers of Iron Homeostasis Bell, Steven ; Rigas, Andreas S. ; Magnusson, Magnus K. ; Ferkingstad, Egil ; Allara, Elias ; Bjornsdottir, Gyda ; Ramond, Anna ; Sørensen, Erik; Halldorsson, Gisli H. ; Paul, Dirk S. ; Burgdorf, Kristoffer Sølvsten; Eggertsson, Hanne P. ; Howson, Joanna M. M. ; Thørner, Lise W. ; Kristmundsdottir, Snaedis ; Astle, William J. ; Erikstrup, Christian; Sigurdsson, Jon K. ; Vukovic, Dragana; Dinh, Khoa M. ; Tragante, Vinicius ; Surendran, Praveen ; Pedersen, Ole Birger; Vidarsson, Brynja ; Jiang, Tao; Paarup, Helene M.; Onundarson, Pall T. ; Akbari, Parsa ; Nielsen, Kaspar René; Lund, Sigrun H. ; Juliusson, Kristinn ; Magnusson, Magnus I. ; Frigge, Michael L. ; Oddsson, Asmundur ; Olafsson, Isleifur ; Kaptoge, Stephen ; Hjalgrim, Henrik; Runarsson, Gudmundur ; Wood, Angela M. ; Jonsdottir, Ingileif ; Folkmann Hansen, Thomas; Sigurdardottir, Olof ; Stefansson, Hreinn ; Rye, David ; Andersen, Steffen; Banasik, Karina; Brunak, Søren; Burgdorf, Kristoffer ; Erikstrup, Christian; Jemec, Gregor Borut Ernst; Jennum, Poul; Johanssond, Pär I.; Nyegaard, Mette; Petersen, Mikkel; Werge, Thomas; Peters, James E. ; Westergaard, David; Holm, Hilma ; Soranzo, Nicole ; Thorleifsson, Gudmar ; Ouwehand, Willem H. ; Thorsteinsdottir, Unnur ; Roberts, David J. ; Sulem, Patrick; Butterworth, Adam S. ; Gudbjartsson, Daniel F. ; Danesh, John ; Brunak, Søren; Angelantonio, Emanuele Di ; Ullum, Henrik; Stefansson, Kari Document Version Final published version Published in: Communications Biology DOI: 10.1038/s42003-020-01575-z Publication date: 2021 License CC BY Citation for published version (APA): Bell, S., Rigas, A. S., Magnusson, M. K., Ferkingstad, E., Allara, E., Bjornsdottir, G., Ramond, A., Sørensen, E., Halldorsson, G. H., Paul, D. S., Burgdorf, K. S., Eggertsson, H. P., Howson, J. M. M., Thørner, L. W., Kristmundsdottir, S., Astle, W. J., Erikstrup, C., Sigurdsson, J. -
Open Targets Genetics
bioRxiv preprint doi: https://doi.org/10.1101/2020.09.16.299271; this version posted September 17, 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-ND 4.0 International license. 1 Open Targets Genetics: An open approach to systematically prioritize causal variants 2 and genes at all published GWAS trait-associated loci 3 4 Edward Mountjoy1,2, Ellen M. Schmidt1,2, Miguel Carmona2,3, Gareth Peat2,3, Alfredo Miranda2,3, 5 Luca Fumis2,3, James Hayhurst2,3, Annalisa Buniello2,3, Jeremy Schwartzentruber1,2,3, Mohd 6 Anisul Karim1,2, Daniel Wright1,2, Andrew Hercules2,3, Eliseo Papa4, Eric Fauman5, Jeffrey C. 7 Barrett1,2, John A. Todd6, David Ochoa2,3, Ian Dunham1,2,3, Maya Ghoussaini1,2,*. 8 9 1. Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 10 1SA, UK 11 2. Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK 12 3. European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), 13 Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK 14 4. Systems Biology, Biogen, Cambridge, MA, 02142, United States 15 5. Integrative Biology, Internal Medicine Research Unit, Pfizer Worldwide Research, 16 Development and Medical, Cambridge, MA 02139, United States 17 6. Wellcome Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford 18 Biomedical Research Centre, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, 19 UK 20 * Corresponding author 21 22 23 24 bioRxiv preprint doi: https://doi.org/10.1101/2020.09.16.299271; this version posted September 17, 2020.