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Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation.
Liu, Zhu; Mushayahama, Tremayne; Queme, Bryan; Ebert, Dustin; Muruganujan, Anushya; Mills, Caitlin; Thomas, Paul D; Mi, Huaiyu.
Afiliação
  • Liu Z; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Mushayahama T; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Queme B; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Ebert D; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Muruganujan A; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Mills C; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Thomas PD; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
  • Mi H; Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Nucleic Acids Res ; 50(W1): W57-W65, 2022 07 05.
Article em En | MEDLINE | ID: mdl-35640593
ABSTRACT
The Annotation Query (AnnoQ) (http//annoq.org/) is designed to provide comprehensive and up-to-date functional annotations for human genetic variants. The system is supported by an annotation database with ∼39 million human variants from the Haplotype Reference Consortium (HRC) pre-annotated with sequence feature annotations by WGSA and functional annotations to Gene Ontology (GO) and pathways in PANTHER. The database operates on an optimized Elasticsearch framework to support real-time complex searches. This implementation enables users to annotate data with the most up-to-date functional annotations via simple queries instead of setting up individual tools. A web interface allows users to interactively browse the annotations, annotate variants and search variant data. Its easy-to-use interface and search capabilities are well-suited for scientists with fewer bioinformatics skills such as bench scientists and statisticians. AnnoQ also has an API for users to access and annotate the data programmatically. Packages for programming languages, such as the R package, are available for users to embed the annotation queries in their scripts. AnnoQ serves researchers with a wide range of backgrounds and research interests as an integrated annotation platform.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Software / Anotação de Sequência Molecular Limite: Humans Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Software / Anotação de Sequência Molecular Limite: Humans Idioma: En Revista: Nucleic Acids Res Ano de publicação: 2022 Tipo de documento: Article