Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals
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Published:2024-08-14
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ISSN:0938-8990
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Container-title:Mammalian Genome
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language:en
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Short-container-title:Mamm Genome
Author:
Tammen ImkeORCID, Mather MariusORCID, Leeb TossoORCID, Nicholas Frank W.ORCID
Abstract
AbstractOnline Mendelian Inheritance in Animals (OMIA) is a freely available curated knowledgebase that contains information and facilitates research on inherited traits and diseases in animals. For the past 29 years, OMIA has been used by animal geneticists, breeders, and veterinarians worldwide as a definitive source of information. Recent increases in curation capacity and funding for software engineering support have resulted in software upgrades and commencement of several initiatives, which include the enhancement of variant information and links to human data resources, and the introduction of ontology-based breed information and categories. We provide an overview of current information and recent enhancements to OMIA and discuss how we are expanding the integration of OMIA into other resources and databases via the use of ontologies and the adaptation of tools used in human genetics.
Funder
University of Sydney
Publisher
Springer Science and Business Media LLC
Reference30 articles.
1. Anderson H, Davison S, Lytle KM, Honkanen L, Freyer J, Mathlin J, Kyöstilä K, Inman L, Louviere A, Chodroff Foran R, Forman OP, Lohi H, Donner J (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804. https://doi.org/10.1371/journal.pgen.1009804 2. Bogue MA, Ball RL, Walton DO, Dunn MH, Kolishovski G, Berger A, Lamoureux A, Grubb SC, Gerring M, Kim M, Liang H, Emerson J, Stearns T, He H, Mukherjee G, Bluis J, Davis S, Desai S, Sundberg B, Kadakkuzha B, Kunde-Ramamoorthy G, Philip VM, Chesler EJ (2023) Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses. Mamm Genome 34:509–519. https://doi.org/10.1007/s00335-023-10014-3 3. Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D (2020) An improved phenotype-driven tool for rare mendelian variant prioritization: Benchmarking exomiser on real patient whole-exome data. Genes (Basel) 11:460. https://doi.org/10.3390/genes11040460 4. den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 37:564–569. https://doi.org/10.1002/humu.22981 5. DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL (2022) The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources. Genet Med 24:1732–1742. https://doi.org/10.1016/j.gim.2022.04.017
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