Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals

被引：2

作者：

Tammen, Imke ^{[1
]}

Mather, Marius ^{[2
]}

Leeb, Tosso ^{[3
]}

Nicholas, Frank W. ^{[1
]}

机构：

[1] Univ Sydney, Sydney Sch Vet Sci, Sydney, NSW 2006, Australia

[2] Univ Sydney, Sydney Informat Hub, Sydney, NSW 2006, Australia

[3] Univ Bern, Inst Genet, Vetsuisse Fac, CH-3001 Bern, Switzerland

来源：

MAMMALIAN GENOME | 2024年 / 35卷 / 04期

关键词：

Mendelian inheritance; Likely causal variants; Phene; Web database; Ontology; SEQUENCE VARIANTS;

D O I：

10.1007/s00335-024-10059-y

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Online 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.

引用

页码：556 / 564

页数：9

共 29 条

[1] Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats [J].

Anderson, Heidi ;

Davison, Stephen ;

Lytle, Katherine M. ;

Honkanen, Leena ;

Freyer, Jamie ;

Mathlin, Julia ;

Kyostila, Kaisa ;

Inman, Laura ;

Louviere, Annette ;

Foran, Rebecca Chodroff ;

Forman, Oliver P. ;

Lohi, Hannes ;

Donner, Jonas .

PLOS GENETICS, 2022, 18 (06)

[2]

[Anonymous], ONLINE MENDELIAN INH

[3] Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses [J].

Bogue, Molly A. ;

Ball, Robyn L. ;

Walton, David O. ;

Dunn, Matthew H. ;

Kolishovski, Georgi ;

Berger, Alexander ;

Lamoureux, Anna ;

Grubb, Stephen C. ;

Gerring, Matthew ;

Kim, Matthew ;

Liang, Hongping ;

Emerson, Jake ;

Stearns, Timothy ;

He, Hao ;

Mukherjee, Gaurab ;

Bluis, John ;

Davis, Sara ;

Desai, Sejal ;

Sundberg, Beth ;

Kadakkuzha, Beena ;

Kunde-Ramamoorthy, Govindarajan ;

Philip, Vivek M. ;

Chesler, Elissa J. .

MAMMALIAN GENOME, 2023, 34 (04) :509-519

[4] An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data [J].

Cipriani, Valentina ;

Pontikos, Nikolas ;

Arno, Gavin ;

Sergouniotis, Panagiotis, I ;

Lenassi, Eva ;

Thawong, Penpitcha ;

Danis, Daniel ;

Michaelides, Michel ;

Webster, Andrew R. ;

Moore, Anthony T. ;

Robinson, Peter N. ;

Jacobsen, Julius Ob ;

Smedley, Damian .

GENES, 2020, 11 (04)

[5] HGVS Recommendations for the Description of Sequence Variants: 2016 Update [J].

den Dunnen, Johan T. ;

Dalgleish, Raymond ;

Maglott, Donna R. ;

Hart, Reece K. ;

Greenblatt, Marc S. ;

McGowan-Jordan, Jean ;

Roux, Anne-Francoise ;

Smith, Timothy ;

Antonarakis, Stylianos E. ;

Taschner, Peter E. M. .

HUMAN MUTATION, 2016, 37 (06) :564-569

[6] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources [J].

DiStefano, Marina T. ;

Goehringer, Scott ;

Babb, Lawrence ;

Alkuraya, Fowzan S. ;

Amberger, Joanna ;

Amin, Mutaz ;

Austin-Tse, Christina ;

Balzotti, Marie ;

Berg, Jonathan S. ;

Birney, Ewan ;

Bocchini, Carol ;

Bruford, Elspeth A. ;

Coffey, Alison J. ;

Collins, Heather ;

Cunningham, Fiona ;

Daugherty, Louise C. ;

Einhorn, Yaron ;

Firth, Helen, V ;

Fitzpatrick, David R. ;

Foulger, Rebecca E. ;

Goldstein, Jennifer ;

Hamosh, Ada ;

Hurles, Matthew R. ;

Leigh, Sarah E. ;

Leong, Ivone U. S. ;

Maddirevula, Sateesh ;

Martin, Christa L. ;

McDonagh, Ellen M. ;

Olry, Annie ;

Puzriakova, Arina ;

Radtke, Kelly ;

Ramos, Erin M. ;

Rath, Ana ;

Riggs, Erin Rooney ;

Roberts, Angharad M. ;

Rodwell, Charlotte ;

Snow, Catherine ;

Stark, Zornitza ;

Tahiliani, Jackie ;

Tweedie, Susan ;

Ware, James S. ;

Weller, Phillip ;

Williams, Eleanor ;

Wright, Caroline F. ;

Yates, Thabo Michael ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2022, 24 (08) :1732-1742

[7]

Django Software Foundation, 2023, DJANGO VERSION 42 CO

[8] Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs [J].

Donner, Jonas ;

Freyer, Jamie ;

Davison, Stephen ;

Anderson, Heidi ;

Blades, Matthew ;

Honkanen, Leena ;

Inman, Laura ;

Brookhart-Knox, Casey A. ;

Louviere, Annette ;

Forman, Oliver P. ;

Chodroff Foran, Rebecca .

PLOS GENETICS, 2023, 19 (02)

[9] Predicted genetic burden and frequency of phenotype-associated variants in the horse [J].

Durward-Akhurst, S. A. ;

Marlowe, J. L. ;

Schaefer, R. J. ;

Springer, K. ;

Grantham, B. ;

Carey, W. K. ;

Bellone, R. R. ;

Mickelson, J. R. ;

Mccue, M. E. .

SCIENTIFIC REPORTS, 2024, 14 (01)

[10]

European Variation Archive (EVA), 2024, US

← 1 2 3 →