AHIDA: Anstee Hub for Inherited Diseases in Animals

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References to relevant research

AHIDA related publications and conference contributions

(including AHIDA supported projects OMIA and VBO)

2026

Journal publications:

  • Kim MM, Velie BD, Sheehy PA, Courtman NF, Pritchard EC, Haase B. The hitchhiker's guide to feline xanthinuria. J Feline Med Surg. 2026 Mar;28(3):1098612X261424299. doi: 10.1177/1098612X261424299. Epub 2026 Feb 5. PMID: 41641807; PMCID: PMC13018673

2025

Journal publications:

  • Eager KLM, Willet CE, Davis J, Forshaw D, Last R, Pincowski P, Tammen I, O'Rourke BA. A novel HEXA frameshift mutation identified in Angus cattle with GM2 gangliosidosis. Anim Genet. 2025 Dec;56(6):e70059. doi: 10.1111/age.70059. Erratum in: Anim Genet. 2026 Feb;57(1):e70069. doi: 10.1002/age.70069. PMID: 41290211.
  • Eager KLM, Jolly RD, Manning L, Willet CE, Snell RG, Lehnert K, Mckean NE, Sneddon NW, O'Rourke BA, Dittmer KE, Tammen I, Littlejohn M. A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep. Genet Sel Evol. 2025 Oct 23;57(1):60. doi: 10.1186/s12711-025-01005-w. PMID: 41131452; PMCID: PMC12551161.
  • Mullen KR, Tammen I, Matentzoglu NA, Mather M, Balhoff JP, Esdaile E, Leroy G, Park CA, Rando HM, Saklou NT, Webb TL, Vasilevsky NA, Mungall CJ, Haendel MA, Nicholas FW, Toro S. The Vertebrate Breed Ontology: Toward Effective Breed Data Standardization. J Vet Intern Med. 2025 Jul-Aug;39(4):e70133. doi: 10.1111/jvim.70133. PMID: 40413720; PMCID: PMC12103836.
  • Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-Stupp D, Zankl A, Zhang XA, McMurry JA, Chute CG, Hamosh A, Mungall CJ, Haendel MA. Mondo: Integrating Disease Terminology Across Communities. Genetics. 2025 Oct 6:iyaf215. doi: 10.1093/genetics/iyaf215. Epub ahead of print. PMID: 41052288.
  • Casselman I, Carlotta Ferrari, Marie Abitbol, Danika Bannasch, Jerold Bell, Caroline Dufaure de Citres, Carrie J. Finno, Jessica J. Hayward, Jens Häggström, Jason T. Huff, Tosso Leeb, Ingrid Ljungvall, Maria Longeri, Leslie A. Lyons, Marcela Martinez, Cathryn Mellersh, Frank W. Nicholas, Åsa Ohlsson, Pascale Smets, Maria G. Strillacci, Imke Tammen, Frank G. van Steenbeek, Bart J.G. Broeckx.  Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelines. bioRxiv 2025.11.12.687631; doi: https://doi.org/10.1101/2025.11.12.687631 

Conference and industry publications:

  • Tammen, I., Mullen, K. R., Toro, S., Matentzoglu, N. A., Mungall, C. J., Mather, M., Nicholas, F. W., Hamosh, A., & Haendel, M. A. (2025, February). Comparative digital health – integrating information about inherited diseases in non-laboratory animals into the Mondo disease ontology. Digital Health Week, Australia.
  • Tammen, I., Wade, C., Mather, M., Waud, B., Gimeno, M., Velie, B. D., O’Rourke, B., Thompson, M., Zids, J. A. L., & Nicholas, F. W.  The Anstee Hub for Inherited Diseases in Animals (AHIDA) – an online platform for reporting, surveillance and control of inherited diseases in animals. Australian Veterinary Association (AVA) Conference, Sydney, Australia, 12-15 May 2025.
  • Kim M, Velie B, Sheehy P, Courtman N, Waud B, Pritchard E (2025, July) Functional validation of three candidate causal variants in the xanthine dehydrogenase gene associated with feline xanthinuria. 72nd Annual Meeting of the Genetics Society of AustralAsia
  • Tammen I, Mather M, White T, Luo X, Shields S & Nicholas FW (2025, August). Introducing ontology-based clinical synopses and pathogenicity labels of variants for single gene diseases in Online Mendelian Inheritance in Animals (OMIA). International Society of Animal Genetics Conference, Australia. 
  • Eager K, et al. (2025, August). Genome-wide variant filtering discovers likely causal variants for three emerging inherited diseases affecting Australian livestock. International Society of Animal Genetics Conference, Australia. 
  • Manning LK, Eager KLM., O'Rourke BA, Pinczowski P, Spiers ZB, Winkenwerder E, Chamings A, Hazelton M, Krockenberger M, Baskind L, McNally J, Slattery S, Austin H & Tammen I (2025, October). Investigating suspected inherited neurologic and muscular conditions in sheep with advanced pathology diagnostics. International Sheep Veterinary Association Conference, Wollongong, Australia. Abstract published in International Sheep Veterinary Congress, 27-31 October 2025, Wollongong, Australia. Aust Vet J. 2025 Oct;103 Suppl 1:S4-S54. doi: 10.1111/avj.70017. PMID: 41100858.
  • Tammen I, Wade C, Mather M, Waud B, Gimeno M, Velie BD, O’Rourke B, Thompson M, Zids JAL & Nicholas FW (2025, October). The Anstee Hub for Inherited Diseases of Animals (AHIDA) – an online platform for reporting, surveillance and control of inherited diseases in animals. Australian Veterinary Association (AVA) Conference, Australia. Abstract published in International Sheep Veterinary Congress, 27-31 October 2025, Wollongong, Australia. Aust Vet J. 2025 Oct;103 Suppl 1:S4-S54. doi: 10.1111/avj.70017. PMID: 41100858.
  • Faull E, Tammen I. (2025, October) Inherited diseases and traits in Macropodidae: A systematic review of literature databases and Online Mendelian Inheritance in Animals. Wildlife Disease Association Australasian Section, 28 September -3 October 2025, Adelaide Hills, Australia 
  • Eager K (2025, November) Molecular characterisation of inherited diseases in livestock. SSVS 2025 Research Conference, Camden.
  • Manning L (2025, November) Investigation and characterisation of the pathogenesis of suspected inherited neurological and muscular disease in ruminants. SSVS 2025 Research Conference, Camden.
  • Casselman I, Carlotta Ferrari, Marie Abitbol, Danika Bannasch, Jerold Bell, Caroline Dufaure de Citres, Carrie J. Finno, Jessica J. Hayward, Jens Häggström, Jason T. Huff, Tosso Leeb, Ingrid Ljungvall, Maria Longeri, Leslie A. Lyons, Marcela Martinez, Cathryn Mellersh, Frank W. Nicholas, Åsa Ohlsson, Pascale Smets, Maria G. Strillacci, Imke Tammen, Frank G. van Steenbeek, Bart J.G. Broeckx. (2025, December) The Animal Variant Classification Guidelines: an objective and reproducible tool to assess variant pathogenicity. Companion Animal Genetic Health Conference (https://www.cagh.org.uk/conferences/cambridge-2025/), 8-9 December 2025, Cambridge, UK

2024

Journal publications:

  • Tammen, I., Mather, M., Leeb, T., & Nicholas, F. W. (2024). Online Mendelian Inheritance in Animals (OMIA): A genetic resource for vertebrate animals. Mammalian Genome, 35(4), 556–564. https://doi.org/10.1007/s00335-024-10059-y
  • Tammen, I., Bailey, E., Mather, M., & Nicholas, F. W. (2024). Equus in Online Mendelian Inheritance in Animals (OMIA). Animals, 14(14), 2069. https://doi.org/10.3390/ani14142069
  • Manning, L. K., Eager, K. L. M., Willet, C. E., Slattery, S., McNally, J. H., Spiers, Z. B., Hazelton, M., Child, G., Duggan, R., O'Rourke, B. A., & Tammen, I. (2024). Myotonia congenita in Australian Merino sheep with a missense variant inCLCN1. Animals, 14(24), 3703. https://doi.org/10.3390/ani14243703
  • Mullen, K. R., Tammen, I., Matentzoglu, N. A., Mather, M., Mungall, C. J., Haendel, M. A., Nicholas, F. W., & Toro, S.; Vertebrate Breed Ontology Consortium. (2024). The Vertebrate Breed Ontology: Towards effective breed data standardization.ArXiv. https://arxiv.org/abs/2406.02623 

Conference and industry publications:

  • Tammen, I. (2024, March). Inherited disorders of cattle: How to find information about known disorders and how to report and investigate emerging conditions. Australian Cattle Veterinarians Conference, Wodonga, VIC, Australia.
  • Watt, B., Humphries, B., Eager, K., O'Rourke, B., Tammen, I., Johnson, L., & Ngo, A. (2024). A case of inherited alopecia in Poll Dorset sheep. Flock and Herd.Retrieved from http://www.flockandherd.net.au/sheep/ereader/alopecia.html.
  • Johnson, L., Eager, K., O'Rourke, B., & Tammen, I. (2024). Ovine segmental axonopathy. Flock and Herd.Retrieved from https://www.flockandherd.net.au/sheep/ereader/ovine-segmental-axonopathy.html.
  • Eager, K. (2024, November 6). Counting sheep (variants): A tale of bioinformatic pipelines. Student presentation at Sydney School of Veterinary Science (SSVS), Australia.
  • Eager, K. (2024, November 28). Student presentation at EMAI’s Lunch and Learn Seminar, Australia.
  • Tammen, I., & Nicholas, F. W. (2024, April 5). Online Mendelian Inheritance in Animals (OMIA). Mondo Outreach Seminars. Invited online presentation to Mondo stakeholders. Retrieved from https://mondo.monarchinitiative.org/.
  • Eager, K., Winkenwerder, E., Johnson, L., Willet, C., O'Rourke, B., & Tammen, I. (2024, September). Molecular characterisation of inherited diseases in livestock. Plant and Animal Genome (PAG) Conference Australia, Perth.
  • Tammen, I., Gimeno, M., Haase, B., Mather, M., Mullen, K. R., Nicholas, F. W., O’Rourke, B., Thompson, M., Toro, S., Velie, B. D., Wade, C., & Zids, J. A. L. (2024, September). The Anstee Hub for Inherited Diseases of Animals (AHIDA) and Online Mendelian Inheritance in Animals (OMIA) – Utilising standardised nomenclatures and ontologies to facilitate advanced computational analysis in inherited disease research and management. Plant and Animal Genome (PAG) Conference Australia, Perth.
  • McNally, J., & Eager, K. (2024, May 9). Myotonia congenita in Sheep& Segmental axonopathy. NSW District Veterinarians Conference, Menangle, Australia.
  • Tammen, I. (2024, July 3). Online resources to facilitate management of inherited diseases in livestock – OMIA and AHIDA. Sydney Institute for Agriculture - Research Showcase Sustainable Agriculture, Sydney, Australia.
  • Tammen, I. (2024, October 24–25). The Anstee Hub for Inherited Diseases in Animals (AHIDA) – a new online tool supporting veterinarians in their crucial role in managing inherited animal diseases. The Vetexpo, Sydney, Australia.

2023

Journal publications:

  • J.R.S. Meadows, Kidd JM, Wang GD, Parker HG, Schall PZ, Bianchi M, Christmas MJ, Bougiouri K, Buckley RM, Hitte C, Nguyen AK, Wang C, Jagannathan V, Niskanen JE, Frantz LAF, Arumilli M, Hundi S, Lindblad-Toh K, Ginja C, Agustina KK, André C, Boyko AR, Davis BW, Drögemüller M, Feng XY, Gkagkavouzis K, Iliopoulos G, Harris AC, Hytönen MK, Kalthoff DC, Liu YH, Lymberakis P, Poulakakis N, Pires AE, Racimo F, Ramos-Almodovar F, Savolainen P, Venetsani S, Tammen I, Triantafyllidis A, vonHoldt B, Wayne RK, Larson G, Nicholas FW, Lohi H, Leeb T, Zhang YP, Ostrander EA. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol. 2023 Aug 15;24(1):187. doi: 10.1186/s13059-023-03023-7. PMID: 37582787; PMCID: PMC10426128.

Conference and industry publications:

  • I. Tammen, M. Mather, D. Vanichkina, J. Nothman, Z. Li, S. Jufri and F.W. Nicholas. Online Mendelian Inheritance in Animals (OMIA) – looking to the future. Proceedings of the 25th Conference of the Association for the Advancement of Animal Breeding and Genetics (AAABG 2023), Perth: Association for the Advancement of Animal Breeding and Genetics. p286-289; http://www.aaabg.org/aaabghome/AAABG25papers/70Tammen25286.pdf (peer reviewed)
  • I. Tammen, M. Mather, S. Toro, K.R. Mullen, H.M. Rando, N. Vasilevsky, N. Matentzoglu, M. Haendel, Z.-L. Hu, C.A. Park, G. Leroy, F.W. Nicholas. Introducing ontologies to Online Mendelian Inheritance in Animals. P283. 23rd International Congress of Genetics, 16-21 July 2023, Melbourne, https://www.icg2023.com.au/
  • I. Tammen, M. Mather, S. Toro, K. R. Mullen, H. M. Rondo, N. Vasilevsky, N. Matentzoglu, M. Haendel, Z.-L. Hu, C. A. Park, G. Leroy, and F. W. Nicholas. Online Mendelian Inheritance in Animals—Introducing OMIA variant IDs and the Vertebrate Breed Ontology. Proceedings of the 39th International Conference on Animal Genetics, Cape Town, South Africa, P84; https://www.isag.us/Docs/Proceedings/ISAG_2023_Abstracts.pdf
  • C. Wade.  Using genetic tests and reporting inherited disorders in dog breeding: How veterinarians can help (Parts 1 and 2). 48th Australian Small Animal Veterinarians (ASAV) Annual Conference, 7-10 August 2023, Gold Coast, Australia
  • C.M. Wade. Geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. 1st International Plant & Animal Genome Conference-Australia, 22-23 September 2023. Perth, Australia
  • B.E. May, K.S. Notaras, B. Waud, B.D. Velie. Genetic diversity and relatedness in passively trapped Australian feral horses. 1st International Plant & Animal Genome Conference-Australia, 22-23 September 2023. Perth, Australia
  • E.C. Pritchard, R. Gowan, D. Kocic, L. Boland, B. Haase. Hereditary xanthinuria in cats: From the clinic to the lab and back. 1st International Plant & Animal Genome Conference-Australia, 22-23 September 2023. Perth, Australia

2022

Journal publications:

  • N.A. Vasilevsky, N.A. Matentzoglu, S. Toro, J.E. Flack, H. Hegde, D.R. Unni, G. Alyea, J.S. Amberger, L. Babb, J.P. Balhoff, T.I. Bingaman, G.A. Burns, T.J. Callahan, L.C. Carmody, L.E. Chan, G.S. Chang, M. Dumontier, L.E. Failla, M.J. Flowers, H.A. Garrett, D. Gration, T. Groza, M. Hanauer, N.L. Harris, I. Helbig, J.A. Hilton, D.S. Himmelstein, C.T. Hoyt, M.S. Kane, S. Köhler, D. Lagorce, M. Larralde, A. Lock, I. López Santiago, D.R. Maglott, A.J. Malheiro, B.H.M. Meldal, J.A. McMurry, M. Munoz-Torres, T.H. Nelson, D. Ochoa, T.I. Oprea, D. Osumi-Sutherland, H. Parkinson, Z.M. Pendlington, A. Rath, H.L. Rehm, L. Remennik, E.R. Riggs, P. Roncaglia, J.E. Ross, M.F. Shadbolt, K.A. Shefchek, M.N. Similuk, N. Sioutos, R. Sparks, R. Stefancsik, R. Stephan, D. Stupp, J. Chandrabose Sundaramurthi, I. Tammen, C.L. Thaxton, E. Valasek, A.H. Wagner, D. Welter, P.L. Whetzel, L.L. Whiteman, V. Wood, C.H. Xu, A. Zankl, X.A. Zhang, C.G. Chute, P.N. Robinson, C.J. Mungall, A. Hamosh, M.A. Haendel. Mondo: Unifying diseases for the world, by the world. medRxiv 2022.04.13.22273750; doi: https://doi.org/10.1101/2022.04.13.22273750

Conference and industry publications:

  • I. Tammen, M. Mather, Z. Li, J. Nothman, D.P. Vanichkina, and F.W. Nicholas. Online Mendelian Inheritance in Animals (OMIA) – future proofing of a globally used animal genetics knowledgebase. Proceedings of 12th World Congress on Genetics Applied to Livestock Production (WCGALP), p757-760, 3-8 July 2022, Rotterdam, The Netherlands, https://www.wageningenacademic.com/doi/book/10.3920/978-90-8686-940-4 (peer reviewed)
  • I. Tammen, C. Wade, B. Waud, M. Gimeno, B.D. Velie, B. O’Rourke, and F.W. Nicholas. The Anstee Hub for Inherited Diseases of Animals (AHIDA) – development of a new online platform for surveillance, reporting and control of inherited diseases in animals. 11th International Conference on canine and feline genetics and genomics. P61, 2 -8 October 2022, Huntsville, Alabama, USA, https://www.hudsonalpha.org/iccfgg-home/ and https://online.flippingbook.com/view/187823506/
  • S. Mead, N. Beijerink, M. O’Brien, C.  Wade. Genetic variants at the nebulette locus are associated with myxomatous mitral valve disease severity in Cavalier King Charles Spaniels. 11th International Conference on Canine and Feline Genetics and Genomics (ICCFGG) Alabama USA (Poster)
  • K.R. Mullen, N. Matentzoglu , H.M. Rando, N. Vasilevsky, M. Haendel, C.J. Mungall, Z.-L. Hu, G. Leroy, I. Tammen, F.W. Nicholas, and S. Toro. Abyssinian to Zebu: Classifying Animal Breeds with the Vertebrate Breed Ontology (VBO). ISCB Rocky Mountain Bioinformatics Conference, 8-10 December 2022 Snowmass Village, Colorado, USA https://www.iscb.org/rocky2022
  • S. Toro, N. Matentzoglu, N. Vasilevsky, H.M. Rando, M. Haendel, C.J. Mungall, G. Leroy, I. Tammen, and F.W. Nicholas. Classifying animal breeds with the Vertebrate Breed Ontology (VBO).  ICBO 2022: International Conference on Biomedical Ontology, University of Michigan, Ann Arbor, MI, USA September 25-28, 2022, https://icbo-conference.github.io/icbo2022/slides/Toro_VBO_presentation_ICBO2022.pdf
  • F.W. Nicholas, I. Tammen. A Mendel legacy for animals. Mendel Genetics Conference, 20-23 July 2022, Brno, CZ, https://www.mendel22.cz/conference/
  • I. Tammen, F.W. Nicholas. Applying breed and phene ontologies to reporting and analysis of inherited conditions in animals. First Comparative Veterinary Informatics Workshop, 24-25 May 2022. University of Colorado Anschutz Medical Campus, USA. https://monarch-initiative.github.io/phenomics/pages/veterinary.html
  • F.W. Nicholas, I. Tammen, B. O’Rourke. PANEL DISCUSSION. Reporting and surveillance of inherited conditions in animals. VetEXPO, 26-27 October 2022, https://www.iccsydney.com.au/whats-on/events/the-vet-expo-2021, Sydney, Australia

2021

Conference and industry publications:

  • I. Tammen, K. L. M. Eager, S. A. Woolley, S. M. Y. Shields, S. Hermesch, B. A. O’Rourke, F. W. Nicholas. Online Mendelian Inheritance in Animals (OMIA): Updated variant tables for key livestock species. P369 (Poster). 38th International Society for Animal Genetics Conference, virtual conference, July 26-30, 2021. https://www.isag.us/Docs/Proceedings/ISAG2021_Proceedings.pdf
  • I. Tammen, N. Vasilevsky, C. A. Park, Z. Hu, M. Haendel, F. W. Nicholas. Online Mendelian Inheritance in Animals (OMIA): Standardized vocabularies for breeds and traits. P197 (Poster) 38th International Society for Animal Genetics Conference, virtual conference, July 26-30, 2021. https://www.isag.us/Docs/Proceedings/ISAG2021_Proceedings.pdf
  • I. Tammen, N. Vasilevsky, C.A. Park, Z.-L. Hu, M. Haendel, K. L.M. Eager, S.A. Woolley, S.M.Y. Shields, S. Hermesch, B.A. O’Rourke & F.W. Nicholas. Online Mendelian Inheritance in Animals (OMIA): Standardised vocabularies for variants, breeds and traits. W180 (Workshop talk). 38th International Society for Animal Genetics Conference, virtual conference, July 26-30, 2021. https://www.isag.us/Docs/Proceedings/ISAG2021_Proceedings.pdf
  • I. Tammen, C. Wade, B. Waud, M. Godoy Gimeno, B. Velie, B. O’Rourke, F. Nicholas (2021). The Anstee Hub for Inherited Diseases of Animals (AHIDA) – development of a new online platform for surveillance, reporting and control of inherited diseases in animals. 24th Conference of the Association for the Advancement of Animal Breeding and Genetics (AAABG 2021), Armidale: http://www.aaabg.org/aaabghome/AAABG24papers/96Tammen24386.pdf (peer reviewed)
  • B. O’Rourke, Inherited conditions in cattle. Annual conference of the Australian Wagyu Association, 2021 WagyuEdge, 27-29 April 2021, Gold Coast, Australia