189 Infos zu Damian Smedley

11 Aktuelle Nachrichten

— 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...

— 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

Genomics England's monthly, free-to-attend talks presented by GECIP members on the latest research.

Pressemitteilungen der Charité – Universitätsmedizin Berlin

15 Profile in Sozialen Netzwerken

View Damian Smedley's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Damian Smedley discover ... Es fehlt: dykinson

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.

Damian Smedleys berufliches Profil anzeigen LinkedIn ist das weltweit größte berufliche Netzwerk, das Fach- und Führungskräften wie Damian Smedley dabei ...

1 Hobbys & Interessen

Omicia, Inc., a leading provider of clinical genome interpretation and reporting software, announced today that it has delivered more than 500 clinica

6 Persönliche Webseiten

EMBL-EBI

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 ...

Francis Ouellette, Shoba Ranganathan, Lorna Richardson, Philippe Rocca-Serra, Paul N. Schofield, Damian Smedley, Christopher Southan, Tin W. Tan, Tatiana ... › emap › about › publicati...

Arek Kasprzyk, Damian Keefe, Damian Smedley, Darin London, William Spooner, Craig Melsopp, Martin Hammond, Philippe Rocca-Serra, Tony Cox and Ewan ...

4 Infos zur Ausbildung

Lewis, {Suzanna E.} and Robinson, {Peter N.} and Damian Smedley",.

Showing 1 to 20 of 85 results in seconds. ; Damian Smedley · Morris A. Swertz · Katy Wolstencroft; et al. · November 2008, Volume9(Issue6)Pages, ... › ...

... Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson. Abstract:. › bibtexbrowser

... Emma Heath ; Damian P Smedley ; Jeanne Estabel ; David Sunter Schmidts, M. , Hou, Y. , Cortés, C. R. , Mans, D. A. , Huber, C. , Boldt, ...

5 Projekte

Send Message · Damian Smedley. User Activity. No activity to display. Personal Data. Username: dsmedley; Joined: :03:

... US * Eva Huala, Carnegie Institution for Science, US * Hilmar Lapp, National ... MA, US * Damian Smedley, European Bioinformatics Institute, UK * Andreas ...

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.

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.

11 Bücher zum Namen

... Glenn Proctor, Mark Rae, Stephen M. J. Searle, Guy Slater, Damian Smedley, James Smith, William Spooner, Arne Stabenau, Jim Stalker, R. Storey, ...

— Damian Smedley. Roles Funding acquisition, Writing – review & editing. Affiliation William Harvey Research Institute, Queen Mary University ... › authors

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...

... Roger Pettett, Simon Potter, Glenn Proctor, Mark Rae, Steve Searle, Guy Slater, Damian Smedley, James Smith, Will Spooner, Arne Stabenau, James Stalker, ...

6 Dokumente

A community-defined information specification for biological databases

Presented at the American Society for Human Genetics Meeting in the

Monarch Initiative presentation on the phenogrid visualization tool, presented during the Phenotype Day workshop held by the BioOntologies SIG

... Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna E. Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson ...

27 Wissenschaftliche Publikationen

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 ...

Whole exome sequencing has altered the way in which rare diseases are diagnosed and disease genes identified. Hundreds of novel disease-associated genes have...

List of computer science publications by Damian Smedley

› Persons

10 Allgemeine Veröffentlichungen

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...

Email: Damian Smedley - .uk; Syed Haider - .uk; Benoit Ballester - .uk;. Richard Holland ...

› wiki

Biologists need to perform complex queries, often across a variety of databases. Typically, each data resource provides an advanced query interface, each of...

8 Meinungen & Artikel

Oct 12, — Damian Smedley. Comprehensive Pneumology Center, Institute of Lung Biology and Disease, Helmholtz Zentrum München, German Research Center ... › nature communications › articles

Globalization of biomedical research requires sustained investment for databases and biorepositories.

This protocol describes use of the Exomiser suite, a collection of algorithms that allow for prioritization of genes and variants from exome sequencing data...

Congenica, a clinical interpretation partner for 100,000 Genomes Project, announces successful delivery of the first few diagnostic reports.

83 Webfunde aus dem Netz

View Damian Smedley's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Damian Smedley discover ...

Dietrich Rebholz-Schuhmann,; Robert Hoehndorf,; Damian Smedley,; Peter Robinson,; Sebastian Köhler,; Michel Dumontier,; Nigel Collier,; Christopher J ...

Knut Reinert,; David Weese,; Peter Sanders,; Christian Schulz,; Hugues Richard,; Marcel H Schulz,; Max Schubach,; Damian Smedley,; Peter Robinson,; Marten ...

3 of 45 Our goal

The Royal Society London, May st, 2010Mouse models for human disease Centralised vs distributed solutions Genomics MGI Ensembl IKMC projects...

All, Since Citationsh-index, 39, 33. i10-index, 74, Follow. Damian Smedley. Unknown affiliation.

how to access genomic information using ensembl damian smedley and xosé fernández ensembl project... Report. Post on 28-Dec Views. Category: ...

› Ensem...

› impc2021

PhenIX can identify genetic diseases quickly and reliably based on analyses of genes and symptoms

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 ...

PhenIX kann aus Gen- und Symptom-Analysen genetische Erkrankungen sicher und schnell erkennen

Damian Smedley . Using association rule mining to determine promising secondary phenotyping hypotheses. Bioinformatics ¦ Daniel Lobo, Erica B. Feldman,

täglich recherchierte medizinische News

The BioMart Community Portal (www.biomart.org) is a community-driven effort to provide a unified interface to biomedical databases that are ...

We gratefully acknowledge Arek Kasprzyk, Damian Smedley, and Giulietta ... Gentleman RC, Carey V, Hüber W, Irizarry R, Dudoit R, editors.

... 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 ...

Transparent reporting is key to ensuring reproducibility of animal research. This article examines the challenges of applying the ARRIVE guidelines to a...

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

Damian Smedley, Wellcome Trust Sanger Institute; Syed Haider, University of Oxford; Steffen Durinck, Genentech, Inc. Luca Pandini, Center for ...