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

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.