Brain Imaging Documentation
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
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. -
Accurate Segmentation of Brain MR Images
Accurate segmentation of brain MR images Master of Science Thesis in Biomedical Engineering ANTONIO REYES PORRAS PÉREZ Department of Signals and Systems Division of Biomedical Engineering CHALMERS UNIVERSITY OF TECHNOLOGY Göteborg, Sweden, 2010 Report No. EX028/2010 Abstract Full brain segmentation has been of significant interest throughout the years. Recently, many research groups worldwide have been looking into development of patient-specific electromagnetic models for dipole source location in EEG. To obtain this model, accurate segmentation of various tissues and sub-cortical structures is thus required. In this project, the performance of three of the most widely used software packages for brain segmentation has been analyzed: FSL, SPM and FreeSurfer. For the analysis, real images from a patient and a set of phantom images have been used in order to evaluate the performance r of each one of these tools. Keywords: dipole source location, brain, patient-specific model, image segmentation, FSL, SPM, FreeSurfer. Acknowledgements To my advisor, Antony, for his guidance through the project. To my partner, Koushyar, for all the days we have spent in the hospital helping each other. To the staff in Sahlgrenska hospital for their collaboration. To MedTech West for this opportunity to learn. Table of contents 1. Introduction ......................................................................................................................................... 1 2. Magnetic resonance imaging .............................................................................................................. -
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. -
Select Committee on Science and Technology Corrected Oral Evidence: Ageing: Science, Technology and Healthy Living
Select Committee on Science and Technology Corrected oral evidence: Ageing: science, technology and healthy living Tuesday 25 February 2020 10.20 am Watch the meeting Members present: Lord Patel (The Chair); Lord Borwick; Lord Browne of Ladyton; Baroness Hilton of Eggardon; Lord Kakkar; Lord Mair; Baroness Manningham-Buller; Baroness Penn; Viscount Ridley; Baroness Rock; Baroness Sheehan; Baroness Walmsley; Lord Winston; Baroness Young of Old Scone. Evidence Session No. 15 Heard in Public Questions 131 - 138 Witnesses Dame Fiona Caldicott, National Data Guardian; Matthew Gould, CEO, NHSX; Chris Roebuck, Chief Statistician, NHS Digital; Dr Jem Rashbass, Executive Director of Master Registries and Data, NHS Digital. USE OF THE TRANSCRIPT This is a corrected transcript of evidence taken in public and webcast on www.parliamentlive.tv. 1 Examination of witnesses Dame Fiona Caldicott, Matthew Gould, Chris Roebuck and Dr Jem Rashbass. Q131 The Chair: Good morning, Dame Fiona and gentlemen. Welcome and thank you for coming today to help us with this inquiry. There are some familiar faces to me; it is nice to see you. Before we start, would you mind introducing yourselves for the record from my left? If you want to make an opening statement, feel free to do so. If you have any interests to declare, please do so at the beginning. Chris Roebuck: I am the chief statistician at NHS Digital. I am accountable for the nearly 300 sets of official statistics we produce each year. These cover a range of health and care data, predominantly in England, including administrative data, clinical data and survey data. We release them to encourage transparency, to help with local and national decision-making and for public accountability. -
Freesurfer Tutorial
FreeSurfer Tutorial FreeSurfer is brought to you by the Martinos Center for Biomedical Imaging supported by NCRR/P41RR14075, Massachusetts General Hospital, Boston, MA USA 2008-06-01 20:47 1 FreeSurfer Tutorial Table of Contents Section Page Overview and course outline 3 Inspection of Freesurfer output 5 Troubleshooting your output 22 Fixing a bad skull strip 26 Making edits to the white matter 34 Correcting pial surfaces 46 Using control points to fix intensity normalization 50 Talairach registration 55 recon-all: morphometry and reconstruction 69 recon-all: process flow table 97 QDEC Group analysis 100 Group analysis: average subject, design matrix, mri_glmfit 125 Group analysis: visualization and inspection 149 Integrating FreeSurfer and FSL's FEAT 159 Exercise overview 172 Tkmedit reference 176 Tksurfer reference 211 Glossary 227 References 229 Acknowledgments 238 2008-06-01 20:47 2 top FreeSurfer Slides 1. Introduction to Freesurfer - Bruce Fischl 2. Anatomical Analysis with Freesurfer - Doug Greve 3. Surface-based Group Analysis - Doug Greve 4. Applying FreeSurfer Tools to FSL fMRI Analysis - Doug Greve FreeSurfer Tutorial Overview The FreeSurfer tools deal with two main types of data: volumetric data volumes of voxels and surface data polygons that tile a surface. This tutorial should familiarize you with FreeSurfer’s volume and surface processing streams, the recommended workflow to execute these, and many of their component tools. The tutorial also describes some of FreeSurfer's tools for registering volumetric datasets, performing group analysis on morphology data, and integrating FSL Feat output with FreeSurfer overlaying color coded parametric maps onto the cortical surface and visualizing plotted results. -
Confrontsred Tape
IPS: THE MENTAL HEALTH SERVICES CONFERENCE Oct. 8-11, 2015 • New York City When Good Care Confronts Red Tape Navigating the System for Our Patients and Our Practice New York, NY | Sheraton New York Times Square POSTER SESSION OCTOBER 09, 2015 POSTER SESSION 1 P1- 1 ANGIOEDEMA DUE TO POTENTIATING EFFECTS OF RITONIVIR ON RISPERIDONE: CASE REPORT Lead Author: Luisa S. Gonzalez, M.D. Co-Author(s): David A. Kasle MSIII Kavita Kothari M.D. SUMMARY: For many drugs, the liver is the principal site of its metabolism. The most important enzyme system of phase I metabolism is the cytochrome P-450 (CYP450). Ritonavir, a protease inhibitor used for the treatment of human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS), has been shown to be a potent inhibitor of the (CYP450) 3A and 2D6 isozymes. This inhibition increases the chance for potential drug-drug interactions with compounds that are metabolized by these isoforms. Risperidone, a second generation atypical antipsychotic, is metabolized to a significant extent by the (CYP450) 2D6, and to a lesser extent 3A4. Ritonavir and risperidone can both cause serious, and even life threatening, side effects. An example of one such rare side effect is angioedema which is characterized by edema of the deep dermal and subcutaneous tissues. Here we present three cases of patients residing in a nursing home setting, diagnosed with HIV/AIDS and comorbid psychiatric illness. These patients were all on antiretroviral medications such as ritonavir, and all later presented with varying degrees of edema after long term use of risperidone. We aim to bring to awareness the potential for ritonavir inhibiting the metabolism of risperidone, thus leading to an increased incidence of angioedema in these patients. -
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. -
Pyvista: Managing & Visualizing Geospatial Data Using an Open
PYVISTA: MANAGING & VISUALIZING GEOSPATIAL DATA USING AN OPEN-SOURCE FRAMEWORK by C. Bane Sullivan c Copyright by C. Bane Sullivan, 2020 All Rights Reserved A thesis submitted to the Faculty and the Board of Trustees of the Colorado School of Mines in partial fulfillment of the requirements for the degree of Master of Science (Hydrol- ogy). Golden, Colorado Date Signed: C. Bane Sullivan Signed: Dr. Whitney J. Trainor-Guitton Thesis Advisor Golden, Colorado Date Signed: Dr. Josh Sharp Professor and Director Hydrologic Science & Engineering Program ii ABSTRACT There is a wide range of data types present in typical hydrogeophysical studies; being able to gather all data types for a given project into a single framework is challenging and often unachievable at an affordable cost for hydrological researchers. Steep licensing fees for commercial software and complex user interfaces in existing open software have limited the accessibility of tools to build, integrate, and make decisions with diverse types of 3D geospa- tial data and models. In earth science research, particularly in hydrology, restricted budgets exacerbate these limitations, creating barriers for using software to manage, visualize, and exchange 3D data in reproducible workflows. In response to these challenges, I have created the PyVista software as an open-source framework for 3D geospatial data management, fu- sion, and visualization. The PyVista Python package provides an accessible and intuitive interface back to a robust and established visualization library, the Visualization Toolkit (VTK), to facilitate rapid analysis and visual integration of spatially referenced datasets. This interface implements spatial data structures encompassing a majority of subsurface applications to make creating, managing, and analyzing spatial data more streamlined for domain scientists. -
Genome-Wide Rare Variant Analysis for Thousands of Phenotypes in Over 70,000 Exomes from Two Cohorts
ARTICLE https://doi.org/10.1038/s41467-020-14288-y OPEN Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts Elizabeth T. Cirulli 1*, Simon White 1, Robert W. Read 2,3, Gai Elhanan2,3, William J. Metcalf2,3, Francisco Tanudjaja 1, Donna M. Fath1, Efren Sandoval1, Magnus Isaksson1, Karen A. Schlauch2,3, Joseph J. Grzymski2,3, James T. Lu1 & Nicole L. Washington1 1234567890():,; Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934 phenotypes (1821 overlapping with UK Biobank) in 21,866 members of the Healthy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix. After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene-based associations in our meta-analysis of the two cohorts and 37 for phenotypes available in only one cohort. Singletons make significant contributions to our results, and the vast majority of the associations could not have been identified with a genotyping chip. Our results are available for interactive browsing in a webapp (https://ukb.research.helix.com). This comprehensive analysis illustrates the biological value of large, deeply phenotyped cohorts of unselected populations coupled with NGS data. 1 Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA 94401, USA. 2 Desert Research Institute, 2215 Raggio Pkwy, Reno, NV 89512, USA. 3 Renown Institute of Health Innovation, Reno, NV 89512, USA. *email: [email protected] NATURE COMMUNICATIONS | (2020) 11:542 | https://doi.org/10.1038/s41467-020-14288-y | www.nature.com/naturecommunications 1 ARTICLE NATURE COMMUNICATIONS | https://doi.org/10.1038/s41467-020-14288-y ver the past decade, we have witnessed the growing depth HNP cohort. -
Wellcome Trust Annual Report and Financial Statements 2019 Is © the Wellcome Trust and Is Licensed Under Creative Commons Attribution 2.0 UK
Annual Report and Financial Statements 2019 Table of contents Report from Chair 3 Report from Director 5 Trustee’s Report 7 What we do 8 Review of Charitable Activities 9 Review of Investment Activities 21 Financial Review 31 Structure and Governance 36 Social Responsibility 40 Risk Management 42 Remuneration Report 44 Remuneration Committee Report 46 Nomination Committee Report 47 Investment Committee Report 48 Audit and Risk Committee Report 49 Independent Auditor’s Report 52 Financial Statements 61 Consolidated Statement of Financial Activities 62 Consolidated Balance Sheet 63 Statement of Financial Activities of the Trust 64 Balance Sheet of the Trust 65 Consolidated Cash Flow Statement 66 Notes to the Financial Statements 67 Alternative Performance Measures and Key Performance Indicators 114 Glossary of Terms 115 Reference and Administrative Details 116 Table of Contents Wellcome Trust Annual Report 2019 | 2 Report from Chair During my tenure at Wellcome, which ends in The macro environment is increasingly challenging, 2020, I count myself lucky to have had the which has created volatility in financial markets. opportunity to meet inspiring people from a rich Q4 2018 was a very difficult quarter, but the diversity of sectors, backgrounds, specialisms resumption of interest rate cuts by the US Federal and scientific fields. Reserve underpinned another year of gains for our portfolio. We recognise that the cycle is extended, Wellcome’s achievements belong to the people and that the portfolio is likely to face more who work here and to the people we fund – it is challenging times ahead. a partnership that continues to grow stronger, more influential and more ambitious, spurred by The team is working hard to ensure that our independence. -
Introduction to Medical Image Computing
1 MEDICAL IMAGE COMPUTING (CAP 5937)- SPRING 2017 LECTURE 1: Introduction Dr. Ulas Bagci HEC 221, Center for Research in Computer Vision (CRCV), University of Central Florida (UCF), Orlando, FL 32814. [email protected] or [email protected] 2 • This is a special topics course, offered for the second time in UCF. Lorem Ipsum Dolor Sit Amet CAP5937: Medical Image Computing 3 • This is a special topics course, offered for the second time in UCF. • Lectures: Mon/Wed, 10.30am- 11.45am Lorem Ipsum Dolor Sit Amet CAP5937: Medical Image Computing 4 • This is a special topics course, offered for the second time in UCF. • Lectures: Mon/Wed, 10.30am- 11.45am • Office hours: Lorem Ipsum Dolor Sit Amet Mon/Wed, 1pm- 2.30pm CAP5937: Medical Image Computing 5 • This is a special topics course, offered for the second time in UCF. • Lectures: Mon/Wed, 10.30am-11.45am • Office hours: Mon/Wed, 1pm- 2.30pm • No textbook is Lorem Ipsum Dolor Sit Amet required, materials will be provided. • Avg. grade was A- last CAP5937: Medical Image Computing spring. 6 Image Processing Computer Vision Medical Image Imaging Computing Sciences (Radiology, Biomedical) Machine Learning 7 Motivation • Imaging sciences is experiencing a tremendous growth in the U.S. The NYT recently ranked biomedical jobs as the number one fastest growing career field in the nation and listed bio-medical imaging as the primary reason for the growth. 8 Motivation • Imaging sciences is experiencing a tremendous growth in the U.S. The NYT recently ranked biomedical jobs as the number one fastest growing career field in the nation and listed bio-medical imaging as the primary reason for the growth.