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Curation of pig traits in the Online Mendelian Inheritance in Animals (OMIA) database

  • S M Shields
  • , Susanne Hermesch
  • , F W Nicholas
  • , I Tammen

Research output: Contribution to journalConference articlepeer-review

Abstract

Online Mendelian Inheritance in Animals (OMIA) is a freely available curated database that contains information on inherited traits and disorders (called phenes in OMIA) across more than 250 species. OMIA entries relating to pigs were reviewed, as a relatively low number of Mendelian phenes, as well as low number of phenes for which likely causal variants were listed, were noted when compared to other companion and livestock species. Of the 277 pig phenes recorded within the database at the beginning of this study in March 2020, 228 were classified as defects, 87 were Mendelian traits and for 37 of these, 45 likely causal variants were published. This study aimed to identify gaps in the information for pig phenes within OMIA. Changes to 30 pig phenes were made with a focus on updating information in OMIA's downloadable tables of known likely causal variants, One phene had previously been missed and was added, and 8 phenes were added as part of ongoing curation.
Original languageEnglish
Pages (from-to)390-396
JournalProceedings of the Association for the Advancement of Animal Breeding and Genetics
Volume24
Publication statusPublished - 2021
EventAAABG 2021: 24th Conference of the Association for the Advancement of Animal Breeding and Genetics - Online Event, Online Event
Duration: 2 Nov 20214 Nov 2021

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