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Functional Effects Detailed Research Plan
GeCIP Detailed Research Plan Form Background The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from both academia and the NHS to analyse, refine and make new discoveries from the data from the 100,000 Genomes Project. The aims of the partnerships are: 1. To optimise: • clinical data and sample collection • clinical reporting • data validation and interpretation. 2. To improve understanding of the implications of genomic findings and improve the accuracy and reliability of information fed back to patients. To add to knowledge of the genetic basis of disease. 3. To provide a sustainable thriving training environment. The initial wave of GeCIP domains was announced in June 2015 following a first round of applications in January 2015. On the 18th June 2015 we invited the inaugurated GeCIP domains to develop more detailed research plans working closely with Genomics England. These will be used to ensure that the plans are complimentary and add real value across the GeCIP portfolio and address the aims and objectives of the 100,000 Genomes Project. They will be shared with the MRC, Wellcome Trust, NIHR and Cancer Research UK as existing members of the GeCIP Board to give advance warning and manage funding requests to maximise the funds available to each domain. However, formal applications will then be required to be submitted to individual funders. They will allow Genomics England to plan shared core analyses and the required research and computing infrastructure to support the proposed research. They will also form the basis of assessment by the Project’s Access Review Committee, to permit access to data. -
Plant Pangenome: Impacts on Phenotypes and Evolution Christine Tranchant-Dubreuil, Mathieu Rouard, Francois Sabot
Plant Pangenome: Impacts On Phenotypes And Evolution Christine Tranchant-Dubreuil, Mathieu Rouard, Francois Sabot To cite this version: Christine Tranchant-Dubreuil, Mathieu Rouard, Francois Sabot. Plant Pangenome: Im- pacts On Phenotypes And Evolution. Annual Plant Reviews, Wiley Online Library 2019, 10.1002/9781119312994.apr0664. hal-02053647 HAL Id: hal-02053647 https://hal.archives-ouvertes.fr/hal-02053647 Submitted on 1 Mar 2019 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. Copyright Plant Pangenome: Impacts On Phenotypes And Evolution Christine Tranchant-Dubreuil1,3, Mathieu Rouard2,3, and Francois Sabot1,3 1DIADE University of Montpellier, IRD, 911 Avenue Agropolis, 34934 Montpellier Cedex 5, France 2Bioversity International, Parc Scientifique Agropolis II, 34397 Montpellier Cedex 5, France 3South Green Bioinformatics Platform, Bioversity, CIRAD, INRA, IRD, Montpellier, France With the emergence of low-cost high-throughput sequencing all the genes from a given species are not obtained using a technologies, numerous studies have shown that a single genome single genome (10–12). In plants, evidence first from maize is not enough to identify all the genes present in a species. Re- (13, 14) showed that only half of the genomic structure is cently, the pangenome concept has become widely used to in- conserved between two individuals. -
Algorithms for Computational Biology 8Th International Conference, Alcob 2021 Missoula, MT, USA, June 7–11, 2021 Proceedings
Lecture Notes in Bioinformatics 12715 Subseries of Lecture Notes in Computer Science Series Editors Sorin Istrail Brown University, Providence, RI, USA Pavel Pevzner University of California, San Diego, CA, USA Michael Waterman University of Southern California, Los Angeles, CA, USA Editorial Board Members Søren Brunak Technical University of Denmark, Kongens Lyngby, Denmark Mikhail S. Gelfand IITP, Research and Training Center on Bioinformatics, Moscow, Russia Thomas Lengauer Max Planck Institute for Informatics, Saarbrücken, Germany Satoru Miyano University of Tokyo, Tokyo, Japan Eugene Myers Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany Marie-France Sagot Université Lyon 1, Villeurbanne, France David Sankoff University of Ottawa, Ottawa, Canada Ron Shamir Tel Aviv University, Ramat Aviv, Tel Aviv, Israel Terry Speed Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia Martin Vingron Max Planck Institute for Molecular Genetics, Berlin, Germany W. Eric Wong University of Texas at Dallas, Richardson, TX, USA More information about this subseries at http://www.springer.com/series/5381 Carlos Martín-Vide • Miguel A. Vega-Rodríguez • Travis Wheeler (Eds.) Algorithms for Computational Biology 8th International Conference, AlCoB 2021 Missoula, MT, USA, June 7–11, 2021 Proceedings 123 Editors Carlos Martín-Vide Miguel A. Vega-Rodríguez Rovira i Virgili University University of Extremadura Tarragona, Spain Cáceres, Spain Travis Wheeler University of Montana Missoula, MT, USA ISSN 0302-9743 ISSN 1611-3349 (electronic) Lecture Notes in Bioinformatics ISBN 978-3-030-74431-1 ISBN 978-3-030-74432-8 (eBook) https://doi.org/10.1007/978-3-030-74432-8 LNCS Sublibrary: SL8 – Bioinformatics © Springer Nature Switzerland AG 2021 This work is subject to copyright. -
Computational Pan-Genomics: Status, Promises and Challenges
bioRxiv preprint doi: https://doi.org/10.1101/043430; this version posted March 12, 2016. 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. Computational Pan-Genomics: Status, Promises and Challenges Tobias Marschall1,2, Manja Marz3,60,61,62, Thomas Abeel49, Louis Dijkstra6,7, Bas E. Dutilh8,9,10, Ali Ghaffaari1,2, Paul Kersey11, Wigard P. Kloosterman12, Veli M¨akinen13, Adam Novak15, Benedict Paten15, David Porubsky16, Eric Rivals17,63, Can Alkan18, Jasmijn Baaijens5, Paul I. W. De Bakker12, Valentina Boeva19,64,65,66, Francesca Chiaromonte20, Rayan Chikhi21, Francesca D. Ciccarelli22, Robin Cijvat23, Erwin Datema24,25,26, Cornelia M. Van Duijn27, Evan E. Eichler28, Corinna Ernst29, Eleazar Eskin30,31, Erik Garrison32, Mohammed El-Kebir5,33,34, Gunnar W. Klau5, Jan O. Korbel11,35, Eric-Wubbo Lameijer36, Benjamin Langmead37, Marcel Martin59, Paul Medvedev38,39,40, John C. Mu41, Pieter Neerincx36, Klaasjan Ouwens42,67, Pierre Peterlongo43, Nadia Pisanti44,45, Sven Rahmann29, Ben Raphael46,47, Knut Reinert48, Dick de Ridder50, Jeroen de Ridder49, Matthias Schlesner51, Ole Schulz-Trieglaff52, Ashley Sanders53, Siavash Sheikhizadeh50, Carl Shneider54, Sandra Smit50, Daniel Valenzuela13, Jiayin Wang70,71,72, Lodewyk Wessels56, Ying Zhang23,5, Victor Guryev16,12, Fabio Vandin57,34, Kai Ye68,69,72 and Alexander Sch¨onhuth5 1Center for Bioinformatics, Saarland University, Saarbr¨ucken, Germany; 2Max Planck Institute for Informatics, Saarbr¨ucken, -
UNIVERSITY of CALIFORNIA RIVERSIDE Unsupervised And
UNIVERSITY OF CALIFORNIA RIVERSIDE Unsupervised and Zero-Shot Learning for Open-Domain Natural Language Processing A Dissertation submitted in partial satisfaction of the requirements for the degree of Doctor of Philosophy in Computer Science by Muhammad Abu Bakar Siddique June 2021 Dissertation Committee: Dr. Evangelos Christidis, Chairperson Dr. Amr Magdy Ahmed Dr. Samet Oymak Dr. Evangelos Papalexakis Copyright by Muhammad Abu Bakar Siddique 2021 The Dissertation of Muhammad Abu Bakar Siddique is approved: Committee Chairperson University of California, Riverside To my family for their unconditional love and support. i ABSTRACT OF THE DISSERTATION Unsupervised and Zero-Shot Learning for Open-Domain Natural Language Processing by Muhammad Abu Bakar Siddique Doctor of Philosophy, Graduate Program in Computer Science University of California, Riverside, June 2021 Dr. Evangelos Christidis, Chairperson Natural Language Processing (NLP) has yielded results that were unimaginable only a few years ago on a wide range of real-world tasks, thanks to deep neural networks and the availability of large-scale labeled training datasets. However, existing supervised methods assume an unscalable requirement that labeled training data is available for all classes: the acquisition of such data is prohibitively laborious and expensive. Therefore, zero-shot (or unsupervised) models that can seamlessly adapt to new unseen classes are indispensable for NLP methods to work in real-world applications effectively; such models mitigate (or eliminate) the need for collecting and annotating data for each domain. This dissertation ad- dresses three critical NLP problems in contexts where training data is scarce (or unavailable): intent detection, slot filling, and paraphrasing. Having reliable solutions for the mentioned problems in the open-domain setting pushes the frontiers of NLP a step towards practical conversational AI systems. -
120421-24Recombschedule FINAL.Xlsx
Friday 20 April 18:00 20:00 REGISTRATION OPENS in Fira Palace 20:00 21:30 WELCOME RECEPTION in CaixaForum (access map) Saturday 21 April 8:00 8:50 REGISTRATION 8:50 9:00 Opening Remarks (Roderic GUIGÓ and Benny CHOR) Session 1. Chair: Roderic GUIGÓ (CRG, Barcelona ES) 9:00 10:00 Richard DURBIN The Wellcome Trust Sanger Institute, Hinxton UK "Computational analysis of population genome sequencing data" 10:00 10:20 44 Yaw-Ling Lin, Charles Ward and Steven Skiena Synthetic Sequence Design for Signal Location Search 10:20 10:40 62 Kai Song, Jie Ren, Zhiyuan Zhai, Xuemei Liu, Minghua Deng and Fengzhu Sun Alignment-Free Sequence Comparison Based on Next Generation Sequencing Reads 10:40 11:00 178 Yang Li, Hong-Mei Li, Paul Burns, Mark Borodovsky, Gene Robinson and Jian Ma TrueSight: Self-training Algorithm for Splice Junction Detection using RNA-seq 11:00 11:30 coffee break Session 2. Chair: Bonnie BERGER (MIT, Cambrige US) 11:30 11:50 139 Son Pham, Dmitry Antipov, Alexander Sirotkin, Glenn Tesler, Pavel Pevzner and Max Alekseyev PATH-SETS: A Novel Approach for Comprehensive Utilization of Mate-Pairs in Genome Assembly 11:50 12:10 171 Yan Huang, Yin Hu and Jinze Liu A Robust Method for Transcript Quantification with RNA-seq Data 12:10 12:30 120 Zhanyong Wang, Farhad Hormozdiari, Wen-Yun Yang, Eran Halperin and Eleazar Eskin CNVeM: Copy Number Variation detection Using Uncertainty of Read Mapping 12:30 12:50 205 Dmitri Pervouchine Evidence for widespread association of mammalian splicing and conserved long range RNA structures 12:50 13:10 169 Melissa Gymrek, David Golan, Saharon Rosset and Yaniv Erlich lobSTR: A Novel Pipeline for Short Tandem Repeats Profiling in Personal Genomes 13:10 13:30 217 Rory Stark Differential oestrogen receptor binding is associated with clinical outcome in breast cancer 13:30 15:00 lunch break Session 3. -
Ontology-Based Methods for Analyzing Life Science Data
Habilitation a` Diriger des Recherches pr´esent´ee par Olivier Dameron Ontology-based methods for analyzing life science data Soutenue publiquement le 11 janvier 2016 devant le jury compos´ede Anita Burgun Professeur, Universit´eRen´eDescartes Paris Examinatrice Marie-Dominique Devignes Charg´eede recherches CNRS, LORIA Nancy Examinatrice Michel Dumontier Associate professor, Stanford University USA Rapporteur Christine Froidevaux Professeur, Universit´eParis Sud Rapporteure Fabien Gandon Directeur de recherches, Inria Sophia-Antipolis Rapporteur Anne Siegel Directrice de recherches CNRS, IRISA Rennes Examinatrice Alexandre Termier Professeur, Universit´ede Rennes 1 Examinateur 2 Contents 1 Introduction 9 1.1 Context ......................................... 10 1.2 Challenges . 11 1.3 Summary of the contributions . 14 1.4 Organization of the manuscript . 18 2 Reasoning based on hierarchies 21 2.1 Principle......................................... 21 2.1.1 RDF for describing data . 21 2.1.2 RDFS for describing types . 24 2.1.3 RDFS entailments . 26 2.1.4 Typical uses of RDFS entailments in life science . 26 2.1.5 Synthesis . 30 2.2 Case study: integrating diseases and pathways . 31 2.2.1 Context . 31 2.2.2 Objective . 32 2.2.3 Linking pathways and diseases using GO, KO and SNOMED-CT . 32 2.2.4 Querying associated diseases and pathways . 33 2.3 Methodology: Web services composition . 39 2.3.1 Context . 39 2.3.2 Objective . 40 2.3.3 Semantic compatibility of services parameters . 40 2.3.4 Algorithm for pairing services parameters . 40 2.4 Application: ontology-based query expansion with GO2PUB . 43 2.4.1 Context . 43 2.4.2 Objective . -
BIOGRAPHICAL SKETCH NAME: Berger
BIOGRAPHICAL SKETCH NAME: Berger, Bonnie eRA COMMONS USER NAME (credential, e.g., agency login): BABERGER POSITION TITLE: Simons Professor of Mathematics and Professor of Electrical Engineering and Computer Science EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, include postdoctoral training and residency training if applicable. Add/delete rows as necessary.) EDUCATION/TRAINING DEGREE Completion (if Date FIELD OF STUDY INSTITUTION AND LOCATION applicable) MM/YYYY Brandeis University, Waltham, MA AB 06/1983 Computer Science Massachusetts Institute of Technology SM 01/1986 Computer Science Massachusetts Institute of Technology Ph.D. 06/1990 Computer Science Massachusetts Institute of Technology Postdoc 06/1992 Applied Mathematics A. Personal Statement Advances in modern biology revolve around automated data collection and sharing of the large resulting datasets. I am considered a pioneer in the area of bringing computer algorithms to the study of biological data, and a founder in this community that I have witnessed grow so profoundly over the last 26 years. I have made major contributions to many areas of computational biology and biomedicine, largely, though not exclusively through algorithmic innovations, as demonstrated by nearly twenty thousand citations to my scientific papers and widely-used software. In recognition of my success, I have just been elected to the National Academy of Sciences and in 2019 received the ISCB Senior Scientist Award, the pinnacle award in computational biology. My research group works on diverse challenges, including Computational Genomics, High-throughput Technology Analysis and Design, Biological Networks, Structural Bioinformatics, Population Genetics and Biomedical Privacy. I spearheaded research on analyzing large and complex biological data sets through topological and machine learning approaches; e.g. -
Big Data, Moocs, and ... (PDF)
HHMI Constellation Studios for Science Education November 13-15, 2015 | HHMI Headquarters | Chevy Chase, MD Big Data, MOOCs, and Quantitative Education for Biologists Co-Chairs Pavel Pevzner, University of California- San Diego Sarah Elgin, Washington University Studio Objectives Discuss existing challenges in bioinformatics education with experts in computational biology and quantitative biology education, Evaluate best practices in teaching quantitative and computational biology, and Collaborate with scientist educators to develop instructional modules to support a biology curriculum that includes quantitative approaches. Friday | November 13 4:00 pm Arrival Registration Desk 5:30 – 6:00 pm Reception Great Hall 6:00 – 7:00 pm Dinner Dining Room 7:00 – 7:15 pm Welcome K202 David Asai, HHMI Cynthia Bauerle, HHMI Pavel Pevzner, University of California-San Diego Sarah Elgin, Washington University Alex Hartemink, Duke University 7:15 – 8:00 pm How to Maximize Interaction and Feedback During the Studio K202 Cynthia Bauerle and Sarah Simmons, HHMI 8:00 – 9:00 pm Keynote Presentation K202 "Computing + Biology = Discovery" Speakers: Ran Libeskind-Hadas, Harvey Mudd College Eliot Bush, Harvey Mudd College 9:00 – 11:00 pm Social The Pilot Saturday | November 14 7:30 – 8:15 am Breakfast Dining Room 8:30 – 10:00 am Lecture session 1 K202 Moderator: Pavel Pevzner 834a-854a “How is body fat regulated?” Laurie Heyer, Davidson College 856a-916a “How can we find mutations that cause cancer?” Ben Raphael, Brown University “How does a tumor evolve over time?” 918a-938a Russell Schwartz, Carnegie Mellon University “How fast do ribosomes move?” 940a-1000a Carl Kingsford, Carnegie Mellon University 10:05 – 10:55 am Breakout working groups Rooms: S221, (coffee available in each room) N238, N241, N140 1. -
Computational Biology and Bioinformatics
Vol. 30 ISMB 2014, pages i1–i2 BIOINFORMATICS EDITORIAL doi:10.1093/bioinformatics/btu304 Editorial This special issue of Bioinformatics serves as the proceedings of The conference used a two-tier review system, a continuation the 22nd annual meeting of Intelligent Systems for Molecular and refinement of a process begun with ISMB 2013 in an effort Biology (ISMB), which took place in Boston, MA, July 11–15, to better ensure thorough and fair reviewing. Under the revised 2014 (http://www.iscb.org/ismbeccb2014). The official confer- process, each of the 191 submissions was first reviewed by at least ence of the International Society for Computational Biology three expert referees, with a subset receiving between four and (http://www.iscb.org/), ISMB, was accompanied by 12 Special eight reviews, as needed. These formal reviews were frequently Interest Group meetings of one or two days each, two satellite supplemented by online discussion among reviewers and Area meetings, a High School Teachers Workshop and two half-day Chairs to resolve points of dispute and reach a consensus on tutorials. Since its inception, ISMB has grown to be the largest each paper. Among the 191 submissions, 29 were conditionally international conference in computational biology and bioinfor- accepted for publication directly from the first round review Downloaded from matics. It is expected to be the premiere forum in the field for based on an assessment of the reviewers that the paper was presenting new research results, disseminating methods and tech- clearly above par for the conference. A subset of 16 papers niques and facilitating discussions among leading researchers, were viewed as potentially in the top tier but raised significant practitioners and students in the field. -
Research Report 2006 Max Planck Institute for Molecular Genetics, Berlin Imprint | Research Report 2006
MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS Research Report 2006 Max Planck Institute for Molecular Genetics, Berlin Imprint | Research Report 2006 Published by the Max Planck Institute for Molecular Genetics (MPIMG), Berlin, Germany, August 2006 Editorial Board Bernhard Herrmann, Hans Lehrach, H.-Hilger Ropers, Martin Vingron Coordination Claudia Falter, Ingrid Stark Design & Production UNICOM Werbeagentur GmbH, Berlin Number of copies: 1,500 Photos Katrin Ullrich, MPIMG; David Ausserhofer Contact Max Planck Institute for Molecular Genetics Ihnestr. 63–73 14195 Berlin, Germany Phone: +49 (0)30-8413 - 0 Fax: +49 (0)30-8413 - 1207 Email: [email protected] For further information about the MPIMG please see our website: www.molgen.mpg.de MPI for Molecular Genetics Research Report 2006 Table of Contents The Max Planck Institute for Molecular Genetics . 4 • Organisational Structure. 4 • MPIMG – Mission, Development of the Institute, Research Concept. .5 Department of Developmental Genetics (Bernhard Herrmann) . 7 • Transmission ratio distortion (Hermann Bauer) . .11 • Signal Transduction in Embryogenesis and Tumor Progression (Markus Morkel). 14 • Development of Endodermal Organs (Heiner Schrewe) . 16 • Gene Expression and 3D-Reconstruction (Ralf Spörle). 18 • Somitogenesis (Lars Wittler). 21 Department of Vertebrate Genomics (Hans Lehrach) . 25 • Molecular Embryology and Aging (James Adjaye). .31 • Protein Expression and Protein Structure (Konrad Büssow). .34 • Mass Spectrometry (Johan Gobom). 37 • Bioinformatics (Ralf Herwig). .40 • Comparative and Functional Genomics (Heinz Himmelbauer). 44 • Genetic Variation (Margret Hoehe). 48 • Cell Arrays/Oligofingerprinting (Michal Janitz). .52 • Kinetic Modeling (Edda Klipp) . .56 • In Vitro Ligand Screening (Zoltán Konthur). .60 • Neurodegenerative Disorders (Sylvia Krobitsch). .64 • Protein Complexes & Cell Organelle Assembly/ USN (Bodo Lange/Thorsten Mielke). .67 • Automation & Technology Development (Hans Lehrach). -
University of California Santa Cruz Sample
UNIVERSITY OF CALIFORNIA SANTA CRUZ SAMPLE-SPECIFIC CANCER PATHWAY ANALYSIS USING PARADIGM A dissertation submitted in partial satisfaction of the requirements for the degree of DOCTOR OF PHILOSOPHY in BIOMOLECULAR ENGINEERING AND BIOINFORMATICS by Stephen C. Benz June 2012 The Dissertation of Stephen C. Benz is approved: Professor David Haussler, Chair Professor Joshua Stuart Professor Nader Pourmand Dean Tyrus Miller Vice Provost and Dean of Graduate Studies Copyright c by Stephen C. Benz 2012 Table of Contents List of Figures v List of Tables xi Abstract xii Dedication xiv Acknowledgments xv 1 Introduction 1 1.1 Identifying Genomic Alterations . 2 1.2 Pathway Analysis . 5 2 Methods to Integrate Cancer Genomics Data 10 2.1 UCSC Cancer Genomics Browser . 11 2.2 BioIntegrator . 16 3 Pathway Analysis Using PARADIGM 20 3.1 Method . 21 3.2 Comparisons . 26 3.2.1 Distinguishing True Networks From Decoys . 27 3.2.2 Tumor versus Normal - Pathways associated with Ovarian Cancer 29 3.2.3 Differentially Regulated Pathways in ER+ve vs ER-ve breast can- cers . 36 3.2.4 Therapy response prediction using pathways (Platinum Free In- terval in Ovarian Cancer) . 38 3.3 Unsupervised Stratification of Cancer Patients by Pathway Activities . 42 4 SuperPathway - A Global Pathway Model for Cancer 51 4.1 SuperPathway in Ovarian Cancer . 55 4.2 SuperPathway in Breast Cancer . 61 iii 4.2.1 Chin-Naderi Cohort . 61 4.2.2 TCGA Breast Cancer . 63 4.3 Cross-Cancer SuperPathway . 67 5 Pathway Analysis of Drug Effects 74 5.1 SuperPathway on Breast Cell Lines .