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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. -
Ismb/Eccb 2015
Research Collection Journal Article ISMB/ECCB 2015 Author(s): Moreau, Yves; Beerenwinkel, Niko Publication Date: 2015 Permanent Link: https://doi.org/10.3929/ethz-b-000102416 Originally published in: Bioinformatics 31(12), http://doi.org/10.1093/bioinformatics/btv303 Rights / License: Creative Commons Attribution-NonCommercial 4.0 International This page was generated automatically upon download from the ETH Zurich Research Collection. For more information please consult the Terms of use. ETH Library Bioinformatics, 31, 2015, i1–i2 doi: 10.1093/bioinformatics/btv303 ISMB/ECCB 2015 Editorial ISMB/ECCB 2015 This special issue of Bioinformatics serves as the proceedings of the 175 external reviewers recruited as sub-reviewers by program com- joint 23rd annual meeting of Intelligent Systems for Molecular mittee members. Table 1 provides a summary of the areas, area Biology (ISMB) and 14th European Conference on Computational chairs and a review summary by area. The conference used a two- Biology (ECCB), which took place in Dublin, Ireland, July 10–14, tier review system—a continuation and refinement of a process that 2015 (http://www.iscb.org/ismbeccb2015). ISMB/ECCB 2015, the begun with ISMB/ECCB 2013 in an effort to better ensure thorough official conference of the International Society for Computational and fair reviewing. Under the revised process, each of the 241 sub- Biology (ISCB, http://www.iscb.org/), was accompanied by nine missions was first reviewed by at least three expert referees, with a Special Interest Group meetings of 1 or 2 days each, and two satel- subset receiving between four and six reviews, as needed. lite meetings. -
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, -
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. -
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. -
Are Profile Hidden Markov Models Identifiable?
Are Profile Hidden Markov Models Identifiable? Srilakshmi Pattabiraman Tandy Warnow Department of Electrical and Computer Engineering Department of Computer Science University of Illinois at Urbana-Champaign University of Illinois at Urbana-Champaign Urbana, Illinois Urbana, Illinois [email protected] [email protected] ABSTRACT 1 INTRODUCTION Profile Hidden Markov Models (HMMs) are graphical models that Profile Hidden Markov Models (HMMs) are arguably themost can be used to produce finite length sequences from a distribution. common statistical models in bioinformatics. Originally introduced In fact, although they were only introduced for bioinformatics 25 by Haussler and colleagues in [10, 12], and then expanded later years ago (by Haussler et al., Hawaii International Conference on in many subsequent texts [4–6, 9, 11, 21, 25], profile HMMs are Systems Science 1993), they are arguably the most commonly used now used in many analytical steps in biological sequence analysis statistical model in bioinformatics, with multiple applications, in- [15, 17–19, 22]. cluding protein structure and function prediction, classifications Profile Hidden Markov models are graphical models with match of novel proteins into existing protein families and superfamilies, states, insertion states, and deletion states; and the match and in- metagenomics, and multiple sequence alignment. The standard use sertion states emit letters from an underlying alphabet Σ (i.e., Σ of profile HMMs in bioinformatics has two steps: first a profile may be the 20 amino acids, the four nucleotides, or some other HMM is built for a collection of molecular sequences (which may set of symbols). In the standard form presented in [4] (widely in not be in a multiple sequence alignment), and then the profile HMM use in bioinformatics applications), each profile Hidden Markov is used in some subsequent analysis of new molecular sequences. -
BIOINFORMATICS ISCB NEWS Doi:10.1093/Bioinformatics/Btp280
Vol. 25 no. 12 2009, pages 1570–1573 BIOINFORMATICS ISCB NEWS doi:10.1093/bioinformatics/btp280 ISMB/ECCB 2009 Stockholm Marie-France Sagot1, B.J. Morrison McKay2,∗ and Gene Myers3 1INRIA Grenoble Rhône-Alpes and University of Lyon 1, Lyon, France, 2International Society for Computational Biology, University of California San Diego, La Jolla, CA and 3Howard Hughes Medical Institute Janelia Farm Research Campus, Ashburn, Virginia, USA ABSTRACT Computational Biology (http://www.iscb.org) was formed to take The International Society for Computational Biology (ISCB; over the organization, maintain the institutional memory of ISMB http://www.iscb.org) presents the Seventeenth Annual International and expand the informational resources available to members of the Conference on Intelligent Systems for Molecular Biology bioinformatics community. The launch of ECCB (http://bioinf.mpi- (ISMB), organized jointly with the Eighth Annual European inf.mpg.de/conferences/eccb/eccb.htm) 8 years ago provided for a Conference on Computational Biology (ECCB; http://bioinf.mpi- focus on European research activities in years when ISMB is held inf.mpg.de/conferences/eccb/eccb.htm), in Stockholm, Sweden, outside of Europe, and a partnership of conference organizing efforts 27 June to 2 July 2009. The organizers are putting the finishing for the presentation of a single international event when the ISMB touches on the year’s premier computational biology conference, meeting takes place in Europe every other year. with an expected attendance of 1400 computer scientists, The multidisciplinary field of bioinformatics/computational mathematicians, statisticians, biologists and scientists from biology has matured since gaining widespread recognition in the other disciplines related to and reliant on this multi-disciplinary early days of genomics research. -
Applications of Case-Based Reasoning in Molecular Biology
Articles Applications of Case-Based Reasoning in Molecular Biology Igor Jurisica and Janice Glasgow ■ Case-based reasoning (CBR) is a computational problems by recalling old problems and their reasoning paradigm that involves the storage and solutions and adapting these previous experi- retrieval of past experiences to solve novel prob- ences represented as cases. A case generally lems. It is an approach that is particularly relevant comprises an input problem, an output solu- in scientific domains, where there is a wealth of data but often a lack of theories or general princi- tion, and feedback in terms of an evaluation of ples. This article describes several CBR systems that the solution. CBR is founded on the premise have been developed to carry out planning, analy- that similar problems have similar solutions. sis, and prediction in the domain of molecular bi- Thus, one of the primary goals of a CBR system ology. is to find the most similar, or most relevant, cases for new input problems. The effective- ness of CBR depends on the quality and quan- tity of cases in a case base. In some domains, even a small number of cases provide good so- lutions, but in other domains, an increased number of unique cases improves problem- he domain of molecular biology can be solving capabilities of CBR systems because characterized by substantial amounts of there are more experiences to draw on. Howev- Tcomplex data, many unknowns, a lack of er, larger case bases can also decrease the effi- complete theories, and rapid evolution; rea- ciency of a system. The reader can find detailed soning is often based on experience rather descriptions of the CBR process and systems in than general knowledge. -
Research News
Computing Research News COMPUTING RESEARCH ASSOCIATION, CELEBRATING 40 YEARS OF SERVICE TO THE COMPUTING RESEARCH COMMUNITY JUNE 2013 Vol. 25 / No. 6 Announcements 2 Coalition for National Science Funding 2 CRA Announces Outstanding Undergraduate Researcher Award Winners 3 Computing Research in Action 5 CERP Infographic 6 NSF Funding Opportunity 6 CRA Recognizes Participants 7 CRA Board Members 16 CRA Board Officers 16 CRA Staff 16 Professional Opportunities 17 COMPUTING RESEARCH NEWS, JUNE 2013 Vol. 25 / No. 6 Announcements 2012 Taulbee Report Updated May 15, 2013 Corrected Table F6 Click here to download updated version CRA Releases Latest Research Issue Report New Technology-based Models for Postsecondary Learning: Conceptual Frameworks and Research Agendas The report details the findings of a National Science Foundation-Sponsored Computing Research Association Workshop held at MIT on January 9-11, 2013. From the report: “Advances in technology and in knowledge about expertise, learning, and assessment have the potential to reshape the many forms of education and training past matriculation from high school. In the next decade, higher education, military and workplace training, and professional development must all transform to exploit the opportunities of a new era, leveraging emerging technology-based models that can make learning more efficient and possibly improve student support, all at lower cost for a broader range of learners.” The report is now available as a pdf at http://cra.org/resources/research-issues/. Slides from the presentation at NSF on April 19, 2013 are also available. Investments in STEM Research and Education: Fueling American Innovation On May 7, at the Rayburn House Office Building in Brett Bode from the National Center for Supercomputing Washington, DC, the Coalition for National Science Funding Applications at University of Illinois Urbana-Champaign were (CNSF) held its 19th annual exhibition and reception, on hand to talk about the “Blue Waters” project. -
I S C B N E W S L E T T
ISCB NEWSLETTER FOCUS ISSUE {contents} President’s Letter 2 Member Involvement Encouraged Register for ISMB 2002 3 Registration and Tutorial Update Host ISMB 2004 or 2005 3 David Baker 4 2002 Overton Prize Recipient Overton Endowment 4 ISMB 2002 Committees 4 ISMB 2002 Opportunities 5 Sponsor and Exhibitor Benefits Best Paper Award by SGI 5 ISMB 2002 SIGs 6 New Program for 2002 ISMB Goes Down Under 7 Planning Underway for 2003 Hot Jobs! Top Companies! 8 ISMB 2002 Job Fair ISCB Board Nominations 8 Bioinformatics Pioneers 9 ISMB 2002 Keynote Speakers Invited Editorial 10 Anna Tramontano: Bioinformatics in Europe Software Recommendations11 ISCB Software Statement volume 5. issue 2. summer 2002 Community Development 12 ISCB’s Regional Affiliates Program ISCB Staff Introduction 12 Fellowship Recipients 13 Awardees at RECOMB 2002 Events and Opportunities 14 Bioinformatics events world wide INTERNATIONAL SOCIETY FOR COMPUTATIONAL BIOLOGY A NOTE FROM ISCB PRESIDENT This newsletter is packed with information on development and dissemination of bioinfor- the ISMB2002 conference. With over 200 matics. Issues arise from recommendations paper submissions and over 500 poster submis- made by the Society’s committees, Board of sions, the conference promises to be a scientific Directors, and membership at large. Important feast. On behalf of the ISCB’s Directors, staff, issues are defined as motions and are discussed EXECUTIVE COMMITTEE and membership, I would like to thank the by the Board of Directors on a bi-monthly Philip E. Bourne, Ph.D., President organizing committee, local organizing com- teleconference. Motions that pass are enacted Michael Gribskov, Ph.D., mittee, and program committee for their hard by the Executive Committee which also serves Vice President work preparing for the conference.