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Volumn 48, Issue D1, 2020, Pages D704-D715

The Monarch Initiative in 2019: An integrative data and analytic platform connecting phenotypes to genotypes across species

(59)  Shefchek, Kent A a   Harris, Nomi L b   Gargano, Michael c   Matentzoglu, Nicolas d   Unni, Deepak b   Brush, Matthew e   Keith, Daniel a   Conlin, Tom a   Vasilevsky, Nicole e   Zhang, Xingmin Aaron c   Balhoff, James P f   Babb, Larry g   Bello, Susan M c   Blau, Hannah c   Bradford, Yvonne h   Carbon, Seth b   Carmody, Leigh c   Chan, Lauren E a   Cipriani, Valentina i   Cuzick, Alayne j   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; APPLICATION PROGRAMMING INTERFACE; ARTICLE; AUTOMATION; DATA BASE; DATA INTEGRATION; EXOMISER; GENE TO DISEASE DATA; GENOTYPE; GENOTYPE ONTOLOGY; HUMAN; HUMAN PHENOTYPE ONTOLOGY; INFORMATION PROCESSING; INTEGRATED MONARCH ONTOLOGY; MONARCH ARCHITECTURE; MONARCH INITIATIVE; NCATS TRANSLATOR; NONHUMAN; ONTOLOGY; PHENOTYPE; PRIORITY JOURNAL; PUBLIC-PRIVATE PARTNERSHIP; SEPIO ONTOLOGY; UNIFIED DISEASE ONTOLOGY; UNIFIED PHENOTYPE ONTOLOGY; VARIANT TO DISEASE DATA; ANIMAL; BIOLOGICAL ONTOLOGY; BIOLOGY; COMPUTER INTERFACE; EXOME; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETIC VARIATION; GENOMICS; INTERNET; PROCEDURES; SOFTWARE; TRANSLATIONAL RESEARCH;

EID: 85077668398     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkz997     Document Type: Article
Times cited : (168)

References (51)
  • 4
    • 85045346313 scopus 로고    scopus 로고
    • Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience
    • Gall,T., Valkanas,E., Bello,C., Markello,T., Adams,C., Bone,W.P., Brandt,A.J., Brazill,J.M., Carmichael,L., Davids,M. et al. (2017) Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience. Front. Med., 4, 62.
    • (2017) Front. Med. , vol.4 , pp. 62
    • Gall, T.1    Valkanas, E.2    Bello, C.3    Markello, T.4    Adams, C.5    Bone, W.P.6    Brandt, A.J.7    Brazill, J.M.8    Carmichael, L.9    Davids, M.10
  • 7
    • 84867331444 scopus 로고    scopus 로고
    • The mammalian phenotype ontology as a unifying standard for experimental and high-throughput phenotyping data
    • Smith,C.L. and Eppig,J.T. (2012) The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data. Mamm. Genome, 23, 653-668.
    • (2012) Mamm. Genome , vol.23 , pp. 653-668
    • Smith, C.L.1    Eppig, J.T.2
  • 11
    • 85059799086 scopus 로고    scopus 로고
    • The gene ontology resource: 20 years and still GOing strong
    • The Gene Ontology Consortium
    • The Gene Ontology Consortium (2019) The gene ontology resource: 20 years and still GOing strong. Nucleic Acids Res., 47, D330-D338.
    • (2019) Nucleic Acids Res. , vol.47 , pp. D330-D338
  • 13
    • 85050463854 scopus 로고    scopus 로고
    • Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 2; Peer review: 3 approved]
    • K¨ohler,S., Doelken,S.C., Ruef,B.J., Bauer,S., Washington,N., Westerfield,M., Gkoutos,G., Schofield,P., Smedley,D., Lewis,S.E. et al. (2013) Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 2; peer review: 3 approved]. F1000Res., 2, 30.
    • (2013) F1000Res. , vol.2 , pp. 30
    • K&die1    ohler, S.2    Doelken, S.C.3    Ruef, B.J.4    Bauer, S.5    Washington, N.6    Westerfield, M.7    Gkoutos, G.8    Schofield, P.9    Smedley, D.10    Lewis, S.E.11
  • 17
    • 85084290110 scopus 로고    scopus 로고
    • Phenotype ontologies traversing all the organisms (potato) workshop aims to reconcile logical definitions across species
    • 20 December 2018,preprint: not peer reviewed
    • Matentzoglu,N., Balhoff,J.P., Bello,S.M., Boerkoel,C.F., Bradford,Y.M., Carmody,L.C., Cooper,L., Grove,C., Harris,N., K¨ohler,S. et al. (2018) Phenotype Ontologies Traversing All The Organisms (POTATO) workshop aims to reconcile logical definitions across species. zenodo doi: https://zenodo.org/record/2382757, 20 December 2018,preprint: not peer reviewed.
    • (2018) Zenodo
    • Matentzoglu, N.1    Balhoff, J.P.2    Bello, S.M.3    Boerkoel, C.F.4    Bradford, Y.M.5    Carmody, L.C.6    Cooper, L.7    Grove, C.8    Harris, N.9    K&die10    ohler, S.11
  • 20
    • 85059796305 scopus 로고    scopus 로고
    • OMIM. org: Leveraging knowledge across phenotype-gene relationships
    • Amberger,J.S., Bocchini,C.A., Scott,A.F. and Hamosh,A. (2019) OMIM.org: leveraging knowledge across phenotype-gene relationships. Nucleic Acids Res., 47, D1038-D1043.
    • (2019) Nucleic Acids Res. , vol.47 , pp. D1038-D1043
    • Amberger, J.S.1    Bocchini, C.A.2    Scott, A.F.3    Hamosh, A.4
  • 25
    • 84981513911 scopus 로고    scopus 로고
    • K-boom: A Bayesian approach to ontology structure inference, with applications in disease ontology construction
    • 29 January 2019, preprint: not peer reviewed
    • Mungall,C.J., Koehler,S., Robinson,P., Holmes,I. and Haendel,M. (2019) k-BOOM: A Bayesian approach to ontology structure inference, with applications in disease ontology construction. bioRxiv doi: http://dx.doi.org/10.1101/048843, 29 January 2019, preprint: not peer reviewed.
    • (2019) BioRxiv
    • Mungall, C.J.1    Koehler, S.2    Robinson, P.3    Holmes, I.4    Haendel, M.5
  • 26
    • 85054621716 scopus 로고    scopus 로고
    • ClinVar at five years: Delivering on the promise
    • Landrum,M.J. and Kattman,B.L. (2018) ClinVar at five years: delivering on the promise. Hum. Mutat., 39, 1623-1630.
    • (2018) Hum. Mutat. , vol.39 , pp. 1623-1630
    • Landrum, M.J.1    Kattman, B.L.2
  • 29
    • 84907961999 scopus 로고    scopus 로고
    • The zebrafish anatomy and stage ontologies: Representing the anatomy and development of Danio rerio
    • Van Slyke,C.E., Bradford,Y.M.,Westerfield,M. and Haendel,M.A. (2014) The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio. J. Biomed. Semantics., 5, 12.
    • (2014) J. Biomed. Semantics. , vol.5 , pp. 12
    • Van Slyke, C.E.1    Bradford, Y.M.2    Westerfield, M.3    Haendel, M.A.4
  • 32
    • 33644874797 scopus 로고    scopus 로고
    • Omia (online mendelian inheritance in animals): An enhanced platform and integration into the entrez search interface at ncbi
    • Lenffer,J., Nicholas,F.W., Castle,K., Rao,A., Gregory,S., Poidinger,M., Mailman,M.D. and Ranganathan,S. (2006) OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI. Nucleic Acids Res., 34, D599-D601.
    • (2006) Nucleic Acids Res. , vol.34 , pp. D599-D601
    • Lenffer, J.1    Nicholas, F.W.2    Castle, K.3    Rao, A.4    Gregory, S.5    Poidinger, M.6    Mailman, M.D.7    Ranganathan, S.8
  • 33
    • 85059796742 scopus 로고    scopus 로고
    • Building a livestock genetic and genomic information knowledgebase through integrative developments of Animal QTLdb and CorrDB
    • Hu,Z.-L., Park,C.A. and Reecy,J.M. (2019) Building a livestock genetic and genomic information knowledgebase through integrative developments of Animal QTLdb and CorrDB. Nucleic Acids Res., 47, D701-D710.
    • (2019) Nucleic Acids Res. , vol.47 , pp. D701-D710
    • Hu, Z.-L.1    Park, C.A.2    Reecy, J.M.3
  • 34
    • 85043984531 scopus 로고    scopus 로고
    • Bgeedb, an r package for retrieval of curated expression datasets and for gene list expression localization enrichment tests [version 2; Peer review: 2 approved, 1 approved with reservations]
    • Komljenovic,A., Roux,J., Wollbrett,J., Robinson-Rechavi,M. and Bastian,F.B. (2018) BgeeDB, an R package for retrieval of curated expression datasets and for gene list expression localization enrichment tests. [version 2; peer review: 2 approved, 1 approved with reservations]. F1000Res, 5, 2748.
    • (2018) F1000Res , vol.5 , pp. 2748
    • Komljenovic, A.1    Roux, J.2    Wollbrett, J.3    Robinson-Rechavi, M.4    Bastian, F.B.5
  • 41
    • 85047147505 scopus 로고    scopus 로고
    • An introduction to the saccharomyces genome database (sgd)
    • and SGD Project.
    • Lang,O.W., Nash,R.S., Hellerstedt,S.T., Engel,S.R. and SGD Project. (2018) An introduction to the saccharomyces genome database (SGD). Methods Mol. Biol., 1757, 21-30.
    • (2018) Methods Mol. Biol. , vol.1757 , pp. 21-30
    • Lang, O.W.1    Nash, R.S.2    Hellerstedt, S.T.3    Engel, S.R.4
  • 50
    • 85063570152 scopus 로고    scopus 로고
    • An analysis and metric of reusable data licensing practices for biomedical resources
    • Carbon,S., Champieux,R., McMurry,J.A., Winfree,L., Wyatt,L.R. and Haendel,M.A. (2019) An analysis and metric of reusable data licensing practices for biomedical resources. PLoS One., 14, e0213090.
    • (2019) PLoS One. , vol.14 , pp. 0213090
    • Carbon, S.1    Champieux, R.2    McMurry, J.A.3    Winfree, L.4    Wyatt, L.R.5    Haendel, M.A.6


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