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News
Hundreds of patients in gene study given rare disease diagnosis
www.bbc.co.uk
— Prof Damian Smedley, from the Queen Mary research team, said the new approach "was key to us being able to solve the 'needle in a haystack' ... › news › he...
Guardian: Whole genome sequencing could save NHS millions of ...
— Researchers led by Caulfield and Prof Damian Smedley, also at QMUL, analysed the genomes of 4,660 people from 2,183 families – all early ... › nov
Research Seminar: Professor Damian Smedley and Professor Anna Schuh
www.genomicsengland.co.uk
Genomics England's monthly, free-to-attend talks presented by GECIP members on the latest research.
Netzwerk-Profile
LinkedIn: Damian Smedley | LinkedIn
View Damian Smedley's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Damian Smedley discover ...
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LinkedIn: Damian Smedley - Senior Lecturer - Queen Mary University of London ...
View Damian Smedley's profile on LinkedIn, the world's largest professional community. Damian has 5 jobs listed on their profile. See the complete profile on LinkedIn and discover Damian's connections and jobs at similar companies.
LinkedIn: Damian Smedley | LinkedIn
Damian Smedleys berufliches Profil anzeigen LinkedIn ist das weltweit größte berufliche Netzwerk, das Fach- und Führungskräften wie Damian Smedley dabei ...
Interessen
Omicia Delivers Clinical Reports for 100,000 Genomes Project Main...
www.businesswire.com
Omicia, Inc., a leading provider of clinical genome interpretation and reporting software, announced today that it has delivered more than 500 clinica
Private Homepages
Scientific Publications
grch37.ensembl.org
Yuan Chen, Fiona Cunningham, Daniel Rios, William M McLaren, James A Smith, Bethan Pritchard, Giulietta M Spudich, Simon Brent, Eugene Kulesha, Pablo Marin-Garcia, Damian Smedley, Ewan Birney, Paul Flicek Ensembl variation resources. BMC Bioinformatics 2010, 11:293 (11 May 2010) [Abstract]. Daniel Rios ...
Publications - eMouseAtlas
www.emouseatlas.org
Francis Ouellette, Shoba Ranganathan, Lorna Richardson, Philippe Rocca-Serra, Paul N. Schofield, Damian Smedley, Christopher Southan, Tin W. Tan, Tatiana ... › emap › about › publicati...
Scientific Publications - Ensemblwww.ensembl.org › info › about
www.ensembl.org
Arek Kasprzyk, Damian Keefe, Damian Smedley, Darin London, William Spooner, Craig Melsopp, Martin Hammond, Philippe Rocca-Serra, Tony Cox and Ewan ...
Ausbildung
Tools for exploring mouse models of human disease - Research Portal,...
kclpure.kcl.ac.uk
Lewis, {Suzanna E.} and Robinson, {Peter N.} and Damian Smedley",.
Results | Scholars Portal Journals
journals.scholarsportal.info
Showing 1 to 20 of 85 results in seconds. ; Damian Smedley · Morris A. Swertz · Katy Wolstencroft; et al. · November 2008, Volume9(Issue6)Pages, ... › ...
The International Mouse Phenotyping Consortium Web Portal, a unified...
nms.kcl.ac.uk
... Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson. Abstract:. › bibtexbrowser
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic...
kclpure.kcl.ac.uk
... Emma Heath ; Damian P Smedley ; Jeanne Estabel ; David Sunter Schmidts, M. , Hou, Y. , Cortés, C. R. , Mans, D. A. , Huber, C. , Boldt, ...
Projekte
dsmedley / Profile
sourceforge.net
Send Message · Damian Smedley. User Activity. No activity to display. Personal Data. Username: dsmedley; Joined: :03:
obo-discuss Mailing List for Open Biomedical Ontologies (Page 2)
sourceforge.net
... US * Eva Huala, Carnegie Institution for Science, US * Hilmar Lapp, National ... MA, US * Damian Smedley, European Bioinformatics Institute, UK * Andreas ...
Project The Monarch Initiative | NCBO BioPortal
bioportal.bioontology.org
The Monarch Initiative. Description: Enabling navigation across a rich landscape of phenotypes, diseases, models, and genes for translational research. Institution: Contacts: Melissa Haendel, Chris Mungall, Maryann Martone, Harry Hochhesier, Damian Smedley, Peter Robinson. Home Page: local:www.monarchinitiative.
Project Listing | NCBO BioPortal
bioportal.bioontology.org
Ernesto Jimenez Ruiz and Bernardo Cuenca Grau, University of Oxford, to become a widely used standard within the academic and industrial community Maryann Martone, Harry Hochhesier, Damian Smedley, Peter Robinson, 10.
Bücher
BibSonomy
www.bibsonomy.org
... Glenn Proctor, Mark Rae, Stephen M. J. Searle, Guy Slater, Damian Smedley, James Smith, William Spooner, Arne Stabenau, Jim Stalker, R. Storey, ...
Diffusion enables integration of heterogeneous data and user ...
journals.plos.org
— Damian Smedley. Roles Funding acquisition, Writing – review & editing. Affiliation William Harvey Research Institute, Queen Mary University ... › authors
Incremental data integration for tracking genotype-disease...
journals.plos.org
Author summary Human diseases are often caused or influenced by genetic factors. The link between a particular gene and a specific disease is well-established...
Java for Bioinformatics and Biomedical Applications - Harshawardhan...
books.google.de
... Roger Pettett, Simon Potter, Glenn Proctor, Mark Rae, Steve Searle, Guy Slater, Damian Smedley, James Smith, Will Spooner, Arne Stabenau, James Stalker, ...
Dokumente zum Namen
Gaudet bio db-core
pt.slideshare.net
A community-defined information specification for biological databases
The Monarch Initiative: An integrated genotype-phenotype platform for…
de.slideshare.net
Presented at the American Society for Human Genetics Meeting in the
Toward interactive visual tools for comparing phenotype profiles
de.slideshare.net
Monarch Initiative presentation on the phenogrid visualization tool, presented during the Phenotype Day workshop held by the BioOntologies SIG
SCHATTENBLICK - FORSCHUNG/491: Neues Diagnose-Verfahren soll...
www.schattenblick.de
... Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna E. Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson ...
Wissenschaftliche Veröffentlichungen
A Whole-Genome Analysis Framework for Effective Identification of...
www.sciencedirect.com
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Damian Smedley,,,; Max Schubach,,; Julius O.B. Jacobsen,,; Sebastian Köhler,; Tomasz Zemojtel,,; Malte Spielmann,,; Marten Jäger,,; Harry Hochheiser,; Nicole L. Washington,; Julie ...
Phenotype-driven strategies for exome prioritization of human...
genomemedicine.biomedcentral.com
Whole exome sequencing has altered the way in which rare diseases are diagnosed and disease genes identified. Hundreds of novel disease-associated genes have...
Veröffentlichungen allgemein
Disease insights through cross-species phenotype comparisons |...
link.springer.com
New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of...
BMC Genomics - BioMedSearch
www.biomedsearch.com
Email: Damian Smedley - .uk; Syed Haider - .uk; Benoit Ballester - .uk;. Richard Holland ...
BioMart – biological queries made easy | SpringerLink
link.springer.com
Biologists need to perform complex queries, often across a variety of databases. Typically, each data resource provides an advanced query interface, each of...
Artikel & Meinungen
A large scale hearing loss screen reveals an extensive ...
www.nature.com
Oct 12, — Damian Smedley. Comprehensive Pneumology Center, Institute of Lung Biology and Disease, Helmholtz Zentrum München, German Research Center ... › nature communications › articles
[Policy Forum] Research Funding: Sustaining the Data and Bioresource...
www.chemie.de
Globalization of biomedical research requires sustained investment for databases and biorepositories.
Next-generation diagnostics and disease-gene discovery with the...
www.nature.com
This protocol describes use of the Exomiser suite, a collection of algorithms that allow for prioritization of genes and variants from exome sequencing data...
100,000 Genomes Project: Congenica first UK company to deliver...
blog.congenica.com
Congenica, a clinical interpretation partner for 100,000 Genomes Project, announces successful delivery of the first few diagnostic reports.
Sonstiges
Damian Smedley | LinkedIn
www.linkedin.com
View Damian Smedley's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Damian Smedley discover ...
Anika Oellrich - Google Scholar Citations
scholar.google.co.uk
Dietrich Rebholz-Schuhmann,; Robert Hoehndorf,; Damian Smedley,; Peter Robinson,; Sebastian Köhler,; Michel Dumontier,; Nigel Collier,; Christopher J ...
Manuel Holtgrewe - Google Scholar Citations
scholar.google.com.au
Knut Reinert,; David Weese,; Peter Sanders,; Christian Schulz,; Hugues Richard,; Marcel H Schulz,; Max Schubach,; Damian Smedley,; Peter Robinson,; Marten ...
How to access genomic information using Ensembl Damian Smedley and...
slideplayer.com
3 of 45 Our goal
The Royal Society London, May st, 2010Mouse models for human...
slideplayer.com
The Royal Society London, May st, 2010Mouse models for human disease Centralised vs distributed solutions Genomics MGI Ensembl IKMC projects...
Damian Smedley - Google Scholar Citations
0-scholar-google-com.brum.beds.ac.uk
All, Since Citationsh-index, 39, 33. i10-index, 74, Follow. Damian Smedley. Unknown affiliation.
How to access genomic information using Ensembl Damian Smedley and...
vdocuments.mx
how to access genomic information using ensembl damian smedley and xosé fernández ensembl project... Report. Post on 28-Dec Views. Category: ...
New diagnostic method identifies genetic diseases |...
www.mpg.de
PhenIX can identify genetic diseases quickly and reliably based on analyses of genes and symptoms
Damian Smedley | Cytel Resource Library
resources.cytel.com
We provide unrivaled biostatistics and operations research knowledge to our customers. This knowledge, supported by our trial implementation capabilities, is what makes us different. Services · Adaptive Designs · Strategic Consulting · Biostatistics · Statistical Programming · Clinical Data Management ...
Neues Diagnoseverfahren erkennt Erbkrankheiten |...
www.mpg.de
PhenIX kann aus Gen- und Symptom-Analysen genetische Erkrankungen sicher und schnell erkennen
PhenomicDB is cited in
www.phenomicdb.de
Damian Smedley . Using association rule mining to determine promising secondary phenotyping hypotheses. Bioinformatics ¦ Daniel Lobo, Erica B. Feldman,
MedPort - Newsticker - Artikel - Neues Diagnose-Verfahren erkennt...
www.medport.de
täglich recherchierte medizinische News
"The BioMart community portal: an innovative alternative to large,...
mouseion.jax.org
The BioMart Community Portal (www.biomart.org) is a community-driven effort to provide a unified interface to biomedical databases that are ...
Advanced Genomic Data Mining
journals.plos.org
We gratefully acknowledge Arek Kasprzyk, Damian Smedley, and Giulietta ... Gentleman RC, Carey V, Hüber W, Irizarry R, Dudoit R, editors.
Faculty Research | Faculty Research | The Jackson Laboratory
mouseion.jax.org
... Emily E Miller, David J Shih, Michael D Taylor, Timothy M. Stearns, Roderick T ... Beverly A Searle, Damian Smedley, Cynthia Smith, Inge Thomsen Bernstein, ... Narisu Narisu, Brian L Black, Axel Visel, Len A Pennacchio, and Francis S ...
Applying the ARRIVE Guidelines to an In Vivo Database
journals.plos.org
Transparent reporting is key to ensuring reproducibility of animal research. This article examines the challenges of applying the ARRIVE guidelines to a...
"100,000 Genomes Pilot on Rare-Disease Diagnosis in Health ...
mouseion.jax.org
von D Smedley · · Zitiert von: 17 — Authors. Damian Smedley · Katherine R Smith · Antonio Martin · Ellen A Thomas · Ellen M McDonagh · Valentina Cipriani · Jamie M Ellingford › stfb2021
"The BioMart Community Portal: An Innovative Alternative to ...works.bepress.com › james_reecy
works.bepress.com
Damian Smedley, Wellcome Trust Sanger Institute; Syed Haider, University of Oxford; Steffen Durinck, Genentech, Inc. Luca Pandini, Center for ...
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