User profiles for "author:Damian Smedley"

Damian Smedley

Queen Mary University of London
Verified email at qmul.ac.uk
Cited by 25250

The human phenotype ontology in 2017

S Köhler, NA Vasilevsky, M Engelstad… - Nucleic acids …, 2017 - academic.oup.com
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

An overview of Ensembl

E Birney, TD Andrews, P Bevan, M Caccamo… - Genome …, 2004 - genome.cshlp.org
Ensembl (http://www. ensembl. org/) is a bioinformatics project to organize biological
information around the sequences of large genomes. It is a comprehensive source of stable …

[HTML][HTML] The mammalian gene function resource: the International Knockout Mouse Consortium

A Bradley, K Anastassiadis, A Ayadi, JF Battey… - Mammalian …, 2012 - Springer
Abstract In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious
promise to generate mutations in virtually every protein-coding gene of the mouse genome …

Ensembl 2009

TJP Hubbard, BL Aken, S Ayling… - Nucleic acids …, 2009 - academic.oup.com
Abstract The Ensembl project (http://www. ensembl. org) is a comprehensive genome
information system featuring an integrated set of genome annotation, databases, and other …

Ensembl 2007

TJP Hubbard, BL Aken, K Beal, B Ballester… - Nucleic acids …, 2007 - academic.oup.com
The Ensembl () project provides a comprehensive and integrated source of annotation of
chordate genome sequences. Over the past year the number of genomes available from …

[HTML][HTML] BioMart–biological queries made easy

D Smedley, S Haider, B Ballester, R Holland, D London… - BMC genomics, 2009 - Springer
Background Biologists need to perform complex queries, often across a variety of
databases. Typically, each data resource provides an advanced query interface, each of …

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

S Köhler, SC Doelken, CJ Mungall, S Bauer… - Nucleic acids …, 2014 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …

The BioMart community portal: an innovative alternative to large, centralized data repositories

D Smedley, S Haider, S Durinck, L Pandini… - Nucleic acids …, 2015 - academic.oup.com
Abstract The BioMart Community Portal (www. biomart. org) is a community-driven effort to
provide a unified interface to biomedical databases that are distributed worldwide. The …

The human phenotype ontology in 2021

S Köhler, M Gargano, N Matentzoglu… - Nucleic acids …, 2021 - academic.oup.com
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …

Ensembl 2008

P Flicek, BL Aken, K Beal, B Ballester… - Nucleic acids …, 2007 - academic.oup.com
Abstract The Ensembl project (http://www. ensembl. org) is a comprehensive genome
information system featuring an integrated set of genome annotation, databases and other …