D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 53 Citations 11,850 118 World Ranking 2946 National Ranking 358

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • DNA

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 most cited work include:

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (630 citations)
  • BioMart – biological queries made easy (544 citations)
  • The Human Phenotype Ontology in 2017 (471 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Genetics (38.28%)
  • Computational biology (36.72%)
  • Gene (32.03%)

What were the highlights of his more recent work (between 2018-2021)?

  • Computational biology (36.72%)
  • Gene (32.03%)
  • Human Phenotype Ontology (14.06%)

In recent papers he was focusing on the following fields of study:

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

  • DNA sequencing that connect with fields like Regulatory sequence,
  • Human genetics that intertwine with fields like Mutant.

Between 2018 and 2021, his most popular works were:

  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. (276 citations)
  • PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. (48 citations)
  • New models for human disease from the International Mouse Phenotyping Consortium. (18 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Genetics
  • DNA

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.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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)

828 Citations

The Human Phenotype Ontology in 2017

Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)

677 Citations

BioMart – biological queries made easy

Damian Smedley;Syed Haider;Benoit Ballester;Richard Holland.
BMC Genomics (2009)

667 Citations

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

Damian Smedley;Syed Haider;Steffen Durinck;Luca Pandini.
Nucleic Acids Research (2015)

666 Citations

An Overview of Ensembl

Ewan Birney;T. Daniel Andrews;Paul Bevan;Mario Caccamo.
Genome Research (2004)

532 Citations

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)

497 Citations

EnsMart: A Generic System for Fast and Flexible Access to Biological Data

Arek Kasprzyk;Damian Keefe;Damian Smedley;Darin London.
Genome Research (2004)

497 Citations

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)

437 Citations

BioMart Central Portal—unified access to biological data

Syed Haider;Benoit Ballester;Damian Smedley;Junjun Zhang.
Nucleic Acids Research (2009)

403 Citations

Ensembl’s 10th year

Paul Flicek;Bronwen L. Aken;Benoît Ballester;Kathryn Beal.
Nucleic Acids Research (2010)

367 Citations

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