His scientific interests lie mostly in Computational biology, Genome, Genetics, Human Phenotype Ontology and Biological Ontologies. His Computational biology research includes elements of Genome browser, Genomics and Bioinformatics. His research integrates issues of Positional cloning, Mutant, Embryonic stem cell and Human genetics in his study of Genome.
His Human genetics study incorporates themes from International Knockout Mouse Consortium, Gene trapping and Function. He combines subjects such as Exome sequencing, Exome and Interoperability with his study of Human Phenotype Ontology. His work deals with themes such as The Internet, World Wide Web, Translational research and Data management, which intersect with Ontology.
His primary areas of investigation include Genetics, Computational biology, Gene, Phenotype and Genome. Genetics is a component of his Genomics, Exome sequencing, Exome, Human genome and International Knockout Mouse Consortium studies. His Computational biology research is multidisciplinary, incorporating perspectives in Gene knockout, Gene expression, Gene Annotation and Bioinformatics.
Within one scientific family, Damian Smedley focuses on topics pertaining to Disease under Gene, and may sometimes address concerns connected to Data science. The Genome study combines topics in areas such as Human genetics and DNA sequencing. His study in Annotation is interdisciplinary in nature, drawing from both Information retrieval and Ensembl.
His primary scientific interests are in Computational biology, Gene, Human Phenotype Ontology, Disease and Genome. His Computational biology research incorporates themes from Exome sequencing, Exome, Model organism, Mendelian inheritance and Rare disease. His Gene research is within the category of Genetics.
He has researched Genetics in several fields, including Degenerative Disorder and Parkinsonism. His Human Phenotype Ontology study combines topics in areas such as The Internet and World Wide Web. His Genome research also works with subjects such as
Damian Smedley mainly investigates Computational biology, Human Phenotype Ontology, Gene, Data science and Knowledge base. His Exome research extends to the thematically linked field of Computational biology. His studies in Human Phenotype Ontology integrate themes in fields like Sequencing data and Encoding.
His Gene research focuses on subjects like Disease, which are linked to Mutant and Mendelian inheritance. His Knowledge base research integrates issues from Ontology and The Internet. His work carried out in the field of Genome brings together such families of science as Phenotype, In silico and Model organism.
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer.
Nucleic Acids Research (2014)
The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
BioMart – biological queries made easy
Damian Smedley;Syed Haider;Benoit Ballester;Richard Holland.
BMC Genomics (2009)
The BioMart community portal: an innovative alternative to large, centralized data repositories
Damian Smedley;Syed Haider;Steffen Durinck;Luca Pandini.
Nucleic Acids Research (2015)
An Overview of Ensembl
Ewan Birney;T. Daniel Andrews;Paul Bevan;Mario Caccamo.
Genome Research (2004)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)
EnsMart: A Generic System for Fast and Flexible Access to Biological Data
Arek Kasprzyk;Damian Keefe;Damian Smedley;Darin London.
Genome Research (2004)
A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q
Steven Wiltshire;Steven Wiltshire;Andrew T. Hattersley;Graham A. Hitman;Mark Walker.
American Journal of Human Genetics (2001)
BioMart Central Portal—unified access to biological data
Syed Haider;Benoit Ballester;Damian Smedley;Junjun Zhang.
Nucleic Acids Research (2009)
Ensembl’s 10th year
Paul Flicek;Bronwen L. Aken;Benoît Ballester;Kathryn Beal.
Nucleic Acids Research (2010)
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