title: High-performance web services for querying gene and variant annotation.
abstract: Efficient tools for data management and integration are essential for many aspects of high-throughput biology. In particular, annotations of genes and human genetic variants are commonly used but highly fragmented across many resources. Here, we describe MyGene.info and MyVariant.info, high-performance web services for querying gene and variant annotation information. These web services are currently accessed more than three million times permonth. They also demonstrate a generalizable cloud-based model for organizing and querying biological annotation information. MyGene.info and MyVariant.info are provided as high-performance web services, accessible at http://mygene.info and http://myvariant.info . Both are offered free of charge to the research community.
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Jiwen
authors.initials: J
authors.lastname: Xin
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.|Current address: Avera Cancer Institute, 11099 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Mark
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Cyrus
authors.initials: C
authors.lastname: Afrasiabi
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Ginger
authors.initials: G
authors.lastname: Tsueng
authors.affiliation: Department of Biomedical Informatics and Medical Education, The University of Washington, Box SLU-BIME 358047, Seattle, WA, 98195, USA.
authors.forename: Moritz
authors.initials: M
authors.lastname: Juchler
authors.affiliation: Department of Biomedical Informatics and Medical Education, The University of Washington, Box SLU-BIME 358047, Seattle, WA, 98195, USA.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Gopal
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Gregory S
authors.initials: GS
authors.lastname: Stupp
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Timothy E
authors.initials: TE
authors.lastname: Putman
authors.affiliation: McDonnell Genome Institute, Washington University School of Medicine, 4444 Forest Park Ave, St. Louis, MO, 63108, USA.
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Ainscough
authors.affiliation: McDonnell Genome Institute, Washington University School of Medicine, 4444 Forest Park Ave, St. Louis, MO, 63108, USA.
authors.forename: Obi L
authors.initials: OL
authors.lastname: Griffith
authors.affiliation: Department of Integrative Structural and Computational Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.|The Scripps Translational Science Institute, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
authors.forename: Ali
authors.initials: A
authors.lastname: Torkamani
authors.affiliation: Center for Research in Biological Systems, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Whetzel
authors.affiliation: Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA, 94720, USA.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Mungall
authors.affiliation: Department of Biomedical Informatics and Medical Education, The University of Washington, Box SLU-BIME 358047, Seattle, WA, 98195, USA.
authors.forename: Sean D
authors.initials: SD
authors.lastname: Mooney
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA. asu@scripps.edu.|The Scripps Translational Science Institute, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA. asu@scripps.edu.
authors.forename: Andrew I
authors.initials: AI
authors.lastname: Su
authors.affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA. cwu@scripps.edu.
authors.forename: Chunlei
authors.initials: C
authors.lastname: Wu
mesh_terms: D003628:Database Management Systems; D030541:Databases, Genetic; D014644:Genetic Variation; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation; D017422:Sequence Analysis, DNA; D012984:Software; D014584:User-Computer Interface
keywords: API; Annotation; Cloud; Database; Gene; Repository; Variant