The Experts below are selected from a list of 59151 Experts worldwide ranked by ideXlab platform
Jennifer Harrow - One of the best experts on this subject based on the ideXlab platform.
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Genome Annotation for clinical genomic diagnostics: strengths and weaknesses.
Genome medicine, 2017Co-Authors: Charles A. Steward, Alasdair Parker, Berge A. Minassian, Sanjay M. Sisodiya, Adam Frankish, Jennifer HarrowAbstract:The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing. However, in a considerable number of patients, the genetic basis remains unclear. As clinicians begin to consider whole-Genome sequencing, an understanding of the processes and tools involved and the factors to consider in the Annotation of the structure and function of genomic elements that might influence variant identification is crucial. Here, we discuss and illustrate the strengths and weaknesses of approaches for the Annotation and classification of important elements of protein-coding genes, other genomic elements such as pseudogenes and the non-coding Genome, comparative-genomic approaches for inferring gene function, and new technologies for aiding Genome Annotation, as a practical guide for clinicians when considering pathogenic sequence variation. Complete and accurate Annotation of structure and function of Genome features has the potential to reduce both false-negative (from missing Annotation) and false-positive (from incorrect Annotation) errors in causal variant identification in exome and Genome sequences. Re-analysis of unsolved cases will be necessary as newer technology improves Genome Annotation, potentially improving the rate of diagnosis.
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AnnoTrack--a tracking system for Genome Annotation
BMC genomics, 2010Co-Authors: Felix Kokocinski, Jennifer Harrow, Tim HubbardAbstract:Background As Genome sequences are determined for increasing numbers of model organisms, demand has grown for better tools to facilitate unified Genome Annotation efforts by communities of biologists. Typically this process involves numerous experts from the field and the use of data from dispersed sources as evidence. This kind of collaborative Annotation project requires specialized software solutions for efficient data tracking and processing.
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The vertebrate Genome Annotation (Vega) database
Nucleic Acids Research, 2004Co-Authors: L G Wilming, Tim Hubbard, J G R Gilbert, K Howe, S Trevanion, Jennifer HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) has been designed to be a community resource for browsing manual Annotation of finished sequences from a variety of vertebrate Genomes. Its core database is based on an Ensembl-style schema, extended to incorporate curation-specific metadata. In collaboration with the Genome sequencing centres, Vega attempts to present consistent high-quality Annotation of the published human chromosome sequences. In addition, it is also possible to view various finished regions from other vertebrates, including mouse and zebrafish. Vega displays only manually annotated gene structures built using transcriptional evidence, which can be examined in the browser. Attempts have been made to standardize the Annotation procedure across each vertebrate Genome, which should aid comparative analysis of orthologues across the different finished regions.
L G Wilming - One of the best experts on this subject based on the ideXlab platform.
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The vertebrate Genome Annotation (Vega) database.
Nucleic acids research, 2007Co-Authors: L G Wilming, J G R Gilbert, K Howe, S Trevanion, T Hubbard, J L HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) was first made public in 2004 and has been designed to view manual Annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute. Since its initial release, the number of human annotated loci has more than doubled to close to 33 000 and now contains comprehensive Annotation on 20 of the 24 human chromosomes, four whole mouse chromosomes and around 40% of the zebrafish Danio rerio Genome. In addition, we offer manual Annotation of a number of haplotype regions in mouse and human and regions of comparative interest in pig and dog that are unique to Vega.
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The vertebrate Genome Annotation (Vega) database
Nucleic Acids Research, 2004Co-Authors: L G Wilming, Tim Hubbard, J G R Gilbert, K Howe, S Trevanion, Jennifer HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) has been designed to be a community resource for browsing manual Annotation of finished sequences from a variety of vertebrate Genomes. Its core database is based on an Ensembl-style schema, extended to incorporate curation-specific metadata. In collaboration with the Genome sequencing centres, Vega attempts to present consistent high-quality Annotation of the published human chromosome sequences. In addition, it is also possible to view various finished regions from other vertebrates, including mouse and zebrafish. Vega displays only manually annotated gene structures built using transcriptional evidence, which can be examined in the browser. Attempts have been made to standardize the Annotation procedure across each vertebrate Genome, which should aid comparative analysis of orthologues across the different finished regions.
Klaus Fx Mayer - One of the best experts on this subject based on the ideXlab platform.
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Apollo2Go: a web service adapter for the Apollo Genome viewer to enable distributed Genome Annotation
BMC Bioinformatics, 2007Co-Authors: Kathrin Klee, Rebecca Ernst, Manuel Spannagl, Klaus Fx MayerAbstract:Background Apollo, a Genome Annotation viewer and editor, has become a widely used Genome Annotation and visualization tool for distributed Genome Annotation projects. When using Apollo for Annotation, database updates are carried out by uploading intermediate Annotation files into the respective database. This non-direct database upload is laborious and evokes problems of data synchronicity. Results To overcome these limitations we extended the Apollo data adapter with a generic, configurable web service client that is able to retrieve Annotation data in a GAME-XML-formatted string and pass it on to Apollo's internal input routine. Conclusion This Apollo web service adapter, Apollo2Go, simplifies the data exchange in distributed projects and aims to render the Annotation process more comfortable. The Apollo2Go software is freely available from ftp://ftpmips.gsf.de/plants/apollo_webservice .
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Apollo2Go: a web service adapter for the Apollo Genome viewer to enable distributed Genome Annotation
BMC bioinformatics, 2007Co-Authors: Kathrin Klee, Rebecca Ernst, Manuel Spannagl, Klaus Fx MayerAbstract:Background Apollo, a Genome Annotation viewer and editor, has become a widely used Genome Annotation and visualization tool for distributed Genome Annotation projects. When using Apollo for Annotation, database updates are carried out by uploading intermediate Annotation files into the respective database. This non-direct database upload is laborious and evokes problems of data synchronicity.
J G R Gilbert - One of the best experts on this subject based on the ideXlab platform.
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The vertebrate Genome Annotation (Vega) database.
Nucleic acids research, 2007Co-Authors: L G Wilming, J G R Gilbert, K Howe, S Trevanion, T Hubbard, J L HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) was first made public in 2004 and has been designed to view manual Annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute. Since its initial release, the number of human annotated loci has more than doubled to close to 33 000 and now contains comprehensive Annotation on 20 of the 24 human chromosomes, four whole mouse chromosomes and around 40% of the zebrafish Danio rerio Genome. In addition, we offer manual Annotation of a number of haplotype regions in mouse and human and regions of comparative interest in pig and dog that are unique to Vega.
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The vertebrate Genome Annotation (Vega) database
Nucleic Acids Research, 2004Co-Authors: L G Wilming, Tim Hubbard, J G R Gilbert, K Howe, S Trevanion, Jennifer HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) has been designed to be a community resource for browsing manual Annotation of finished sequences from a variety of vertebrate Genomes. Its core database is based on an Ensembl-style schema, extended to incorporate curation-specific metadata. In collaboration with the Genome sequencing centres, Vega attempts to present consistent high-quality Annotation of the published human chromosome sequences. In addition, it is also possible to view various finished regions from other vertebrates, including mouse and zebrafish. Vega displays only manually annotated gene structures built using transcriptional evidence, which can be examined in the browser. Attempts have been made to standardize the Annotation procedure across each vertebrate Genome, which should aid comparative analysis of orthologues across the different finished regions.
K Howe - One of the best experts on this subject based on the ideXlab platform.
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The vertebrate Genome Annotation (Vega) database.
Nucleic acids research, 2007Co-Authors: L G Wilming, J G R Gilbert, K Howe, S Trevanion, T Hubbard, J L HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) was first made public in 2004 and has been designed to view manual Annotation of human, mouse and zebrafish genomic sequences produced at the Wellcome Trust Sanger Institute. Since its initial release, the number of human annotated loci has more than doubled to close to 33 000 and now contains comprehensive Annotation on 20 of the 24 human chromosomes, four whole mouse chromosomes and around 40% of the zebrafish Danio rerio Genome. In addition, we offer manual Annotation of a number of haplotype regions in mouse and human and regions of comparative interest in pig and dog that are unique to Vega.
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The vertebrate Genome Annotation (Vega) database
Nucleic Acids Research, 2004Co-Authors: L G Wilming, Tim Hubbard, J G R Gilbert, K Howe, S Trevanion, Jennifer HarrowAbstract:The Vertebrate Genome Annotation (Vega) database (http://vega.sanger.ac.uk) has been designed to be a community resource for browsing manual Annotation of finished sequences from a variety of vertebrate Genomes. Its core database is based on an Ensembl-style schema, extended to incorporate curation-specific metadata. In collaboration with the Genome sequencing centres, Vega attempts to present consistent high-quality Annotation of the published human chromosome sequences. In addition, it is also possible to view various finished regions from other vertebrates, including mouse and zebrafish. Vega displays only manually annotated gene structures built using transcriptional evidence, which can be examined in the browser. Attempts have been made to standardize the Annotation procedure across each vertebrate Genome, which should aid comparative analysis of orthologues across the different finished regions.