Damian Smedley und Genome - Info zur Person

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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

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

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, ...

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 ...

BioMart – biological queries made easy | BMC Genomics

bmcgenomics.biomedcentral.com

von D Smedley · · Zitiert von: 739 — Damian Smedley, Syed Haider, Benoit Ballester & Richard Holland. Institute for Genome Sciences & Policy (IGSP), Duke University CIEMAS, ... › ...

Characterizing the mouse genome reveals new gene ...

www.sciencedaily.com

— Lead author Dr Damian Smedley from Queen Mary University of London (QMUL) and a Monarch Initiative Principal Investigator, said: "Although ... ›

Deletions of chromosomal regulatory boundaries are associated with...

genomebiology.biomedcentral.com

Recent data from genome-wide chromosome conformation capture analysis indicate that the human genome is divided into conserved megabase-sized self-interacting...

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.

Genomes Project update: rare disease

www.genomicseducation.hee.nhs.uk

— ... would not have been detected by existing approaches” said Queen Mary University of London's Professor Damian Smedley, who led the study. › ...

"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

100,000 Genomes Pilot on Rare-Disease Diagnosis PubMed

pubmed.ncbi.nlm.nih.gov

by D Smedley · · Cited by 17 — 100,000 Genomes Project Pilot Investigators; Damian Smedley , Katherine R Smith , Antonio Martin , Ellen A Thomas , Ellen M McDonagh ... › ...

Article Usage Statistics Center - Genome Researchgenome.cshlp.org › articleusage

genome.cshlp.org

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

New methods for finding disease-susceptibility genes: impact ...go.gale.com › i.do

go.gale.com

Authors: Mark I McCarthy, Damian Smedley and Winston Hide. Date: Sept. 19, From: Genome Biology(Vol. 4, Issue 10.) Publisher: BioMed Central Ltd.

Scientific Publications - Ashbya Genome Databaseagd.unibas.ch › info › publications

agd.unibas.ch

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

The 100,000 Genomes Pilot on rare disease diagnosis in ...

eprints.soton.ac.uk

von D Smedley · · Zitiert von: 15 — Author: Damian Smedley. Author: Katherine R Smith. Author: Antonio Rueda Martin. Author: Eleanor Seaby. Author: Karen Temple · ORCID iD. › ...

Genetic Diagnosis of Rare Diseases Up With Genome Sequencing -...

www.physiciansweekly.com

— Damian Smedley, Ph.D., from Genomics England in London, and colleagues conducted a pilot study involving […] › ...

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Damian Smedley und Genome Person-Info