-
1
-
-
79954986866
-
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM)
-
Amberger J, Bocchini C, Hamosh A. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM). Human Mutation 2011; 32: 564-7.
-
(2011)
Human Mutation
, vol.32
, pp. 564-567
-
-
Amberger, J.1
Bocchini, C.2
Hamosh, A.3
-
2
-
-
78651286166
-
The Mouse Genome Database (MGD): Premier model organism resource for mammalian genomics and genetics
-
Blake JA, Bult CJ, Kadin JA, et al. The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics. Nucleic Acids Res 2011; 39: D842-8.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D842-D848
-
-
Blake, J.A.1
Bult, C.J.2
Kadin, J.A.3
-
3
-
-
58149199579
-
FlyBase: Enhancing Drosophila Gene Ontology annotations
-
Tweedie S, Ashburner M, Falls K, et al. FlyBase: enhancing Drosophila Gene Ontology annotations. Nucleic Acids Research 2009; 37: D555-9.
-
(2009)
Nucleic Acids Research
, vol.37
, pp. D555-D559
-
-
Tweedie, S.1
Ashburner, M.2
Falls, K.3
-
4
-
-
84876528441
-
ZFIN, the Zebrafish Model Organism Database: Increased support for mutants and transgenics
-
Howe DG, Bradford YM, Conlin T, et al. ZFIN, the Zebrafish Model Organism Database: increased support for mutants and transgenics. Nucleic Acids Research 2013; 41: D854-60.
-
(2013)
Nucleic Acids Research
, vol.41
, pp. D854-D860
-
-
Howe, D.G.1
Bradford, Y.M.2
Conlin, T.3
-
7
-
-
84885393730
-
PhenoDigm: Analyzing curated annotations to associate animal models with human diseases
-
bat025
-
Smedley D, Oellrich A, Köhler S, et al. PhenoDigm: analyzing curated annotations to associate animal models with human diseases. Database 2013; bat025.
-
(2013)
Database
-
-
Smedley, D.1
Oellrich, A.2
Köhler, S.3
-
8
-
-
72949116593
-
Linking human diseases to animal models using ontology-based phenotype annotation
-
Washington NL, Haendel MA, Mungall CJ, et al. Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol 2009; 7: e1000247.
-
(2009)
PLoS Biol
, vol.7
, pp. e1000247
-
-
Washington, N.L.1
Haendel, M.A.2
Mungall, C.J.3
-
11
-
-
33846036091
-
PhenomicDB: A new crossspecies genotype/phenotype resource
-
Groth P, Pavlova N, Kalev I, et al. PhenomicDB: a new crossspecies genotype/phenotype resource. Nucleic Acids Res 2007; 35: D696-9.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. D696-D699
-
-
Groth, P.1
Pavlova, N.2
Kalev, I.3
-
12
-
-
21844471754
-
Systematic association of genes to phenotypes by genome and literature mining
-
Korbel JO, Doerks T, Jensen LJ, et al. Systematic association of genes to phenotypes by genome and literature mining. PLoS Biol 2005; 3: e134.
-
(2005)
PLoS Biol
, vol.3
, pp. e134
-
-
Korbel, J.O.1
Doerks, T.2
Jensen, L.J.3
-
13
-
-
84897694231
-
Mouse model phenotypes provide information about human drug targets
-
Hoehndorf R, Hiebert T, Hardy NW, et al. Mouse model phenotypes provide information about human drug targets. Bioinformatics 2013; 30: 719-25.
-
(2013)
Bioinformatics
, vol.30
, pp. 719-725
-
-
Hoehndorf, R.1
Hiebert, T.2
Hardy, N.W.3
-
14
-
-
76149120425
-
A side effect resource to capture phenotypic effects of drugs
-
Kuhn M, Campillos M, Letunic I, et al. A side effect resource to capture phenotypic effects of drugs. Mol Syst Biol 2010; 6: 343.
-
(2010)
Mol Syst Biol
, vol.6
, pp. 343
-
-
Kuhn, M.1
Campillos, M.2
Letunic, I.3
-
15
-
-
84898815541
-
Dose-specific adverse drug reaction identification in electronic patient records: Temporal data mining in an inpatient psychiatric population
-
Eriksson R, Werge T, Jensen LJ, et al. Dose-specific adverse drug reaction identification in electronic patient records: temporal data mining in an inpatient psychiatric population. Drug Safety 2014; 37: 237-7.
-
(2014)
Drug Safety
, vol.37
, pp. 237-237
-
-
Eriksson, R.1
Werge, T.2
Jensen, L.J.3
-
16
-
-
84879468407
-
Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data. eng
-
Lasko TA, Denny JC, Levy MA. Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data. eng. PLoS One 2013; 8: e66341.
-
(2013)
PLoS One
, vol.8
, pp. e66341
-
-
Lasko, T.A.1
Denny, J.C.2
Levy, M.A.3
-
17
-
-
84960123355
-
Clustering longitudinal clinical marker trajectories from electronic health data: Applications to phenotyping and endotype discovery
-
Austin, Texas, USA
-
Schulam P, Wigley F, Saria S. Clustering longitudinal clinical marker trajectories from electronic health data: applications to phenotyping and endotype discovery. In Proceedings of the Twenty-Ninth AAAI Conference on Artificial Intelligence, Austin, Texas, USA, 2015.
-
(2015)
Proceedings of the Twenty-Ninth AAAI Conference on Artificial Intelligence
-
-
Schulam, P.1
Wigley, F.2
Saria, S.3
-
20
-
-
84861306656
-
500000 fish phenotypes: The new informatics landscape for evolutionary and developmental biology of the vertebrate skeleton
-
Mabee P, Balhoff JP, Dahdul WM, et al. 500000 fish phenotypes: The new informatics landscape for evolutionary and developmental biology of the vertebrate skeleton. J Appl Ichthyol 2012; 28: 300-5.
-
(2012)
J Appl Ichthyol
, vol.28
, pp. 300-305
-
-
Mabee, P.1
Balhoff, J.P.2
Dahdul, W.M.3
-
21
-
-
84884684255
-
Toward knowledge support for analysis and interpretation of complex traits
-
Collier N, Oellrich A, Groza T. Toward knowledge support for analysis and interpretation of complex traits. Genome Biol 2013; 14: 214.
-
(2013)
Genome Biol
, vol.14
, pp. 214
-
-
Collier, N.1
Oellrich, A.2
Groza, T.3
-
22
-
-
84867331444
-
The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data
-
Smith CL, Eppig JT. The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data. Mamm Genome 2013; 23: 653-68.
-
(2013)
Mamm Genome
, vol.23
, pp. 653-668
-
-
Smith, C.L.1
Eppig, J.T.2
-
23
-
-
84891749517
-
The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data
-
Köhler S, Doelken SC, Mungall CJ, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2014; 42: D966-74.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D966-D974
-
-
Köhler, S.1
Doelken, S.C.2
Mungall, C.J.3
-
24
-
-
77951018428
-
Entity/quality-based logical definitions for the human skeletal phenome using PATO
-
Minneapolis, Minnesota, USA
-
Gkoutos GV, Mungall C, Doelken S, et al. Entity/quality-based logical definitions for the human skeletal phenome using PATO. In Proceedings of Annual International Conference of the IEEE Engineering in Medicine and Biology Society, Minneapolis, Minnesota, USA, 2009, 7069-72.
-
(2009)
In Proceedings of Annual International Conference of the IEEE Engineering in Medicine and Biology Society
, pp. 7069-7072
-
-
Gkoutos, G.V.1
Mungall, C.2
Doelken, S.3
-
25
-
-
0021355168
-
A computerised data base for the diagnosis of rare dysmorphic syndromes
-
Winter RM, Baraitser M, Douglas JM. A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet 1984; 21: 121-3.
-
(1984)
J Med Genet
, vol.21
, pp. 121-123
-
-
Winter, R.M.1
Baraitser, M.2
Douglas, J.M.3
-
26
-
-
0034069495
-
Gene Ontology: Tool for the unification of biology
-
Botstein D, Cherry JM, Ashburner M, et al. Gene Ontology: tool for the unification of biology. Nat Genet 2000; 25: 25-9.
-
(2000)
Nat Genet
, vol.25
, pp. 25-29
-
-
Botstein, D.1
Cherry, J.M.2
Ashburner, M.3
-
27
-
-
84869772444
-
three ontologies to define phenotype measurement data
-
Hancock JM. Commentary on Shimoyama et al. (2012): three ontologies to define phenotype measurement data. Front Genet 2014; 5.
-
(2012)
Front Genet
, pp. 5
-
-
Hancock Commentary on Shimoyama, J.M.1
-
28
-
-
84938797712
-
Development and validation of a classification approach for extracting severity automatically from electronic health records
-
Boland MR, Tatonetti NP, Hripcsak G. Development and validation of a classification approach for extracting severity automatically from electronic health records. J Biomed Semant 2015; 6: 14.
-
(2015)
J Biomed Semant
, vol.6
, pp. 14
-
-
Boland, M.R.1
Tatonetti, N.P.2
Hripcsak, G.3
-
29
-
-
84957580256
-
Automatically annotating temporal data from a phenotype-driven mutagenesis screen
-
Dublin, Ireland
-
Greenaway S, Blake A, Retha A, et al. Automatically annotating temporal data from a phenotype-driven mutagenesis screen. In Proceedings of Phenotype Day at ISMB, Dublin, Ireland, 2015.
-
(2015)
Proceedings of Phenotype Day at ISMB
-
-
Greenaway, S.1
Blake, A.2
Retha, A.3
-
30
-
-
84864358886
-
Representation of rare diseases in health information systems: The Orphanet approach to serve a wide range of end users
-
Rath A, Olry A, Dhombres F, et al. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat 2012; 33: 803-8.
-
(2012)
Hum Mutat
, vol.33
, pp. 803-808
-
-
Rath, A.1
Olry, A.2
Dhombres, F.3
-
32
-
-
33644876661
-
The Zebrafish Information Network: The zebrafish model organism database
-
Sprague J, Bayraktaroglu L, Clements D, et al. The Zebrafish Information Network: the zebrafish model organism database. Nucleic Acids Res 2006; 34: D581-5.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. D581-D585
-
-
Sprague, J.1
Bayraktaroglu, L.2
Clements, D.3
-
33
-
-
84860743865
-
Towards an encyclopaedia of mammalian gene function: The International Mouse Phenotyping Consortium
-
Brown SDM, Moore MW. Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium. Dis Models Mech 2012; 5: 289-92.
-
(2012)
Dis Models Mech
, vol.5
, pp. 289-292
-
-
Brown, S.D.M.1
Moore, M.W.2
-
34
-
-
77955287813
-
An overview of MetaMap: Historical perspective and recent advances
-
Aronson AR, Lang FM. An overview of MetaMap: historical perspective and recent advances. J Am Med Inform Assoc 2010; 17: 229-36.
-
(2010)
J Am Med Inform Assoc
, vol.17
, pp. 229-236
-
-
Aronson, A.R.1
Lang, F.M.2
-
35
-
-
0035741485
-
A simple algorithm for identifying negated findings and diseases in discharge summaries
-
Chapman WW, Bridewell W, Hanbury P, et al. A simple algorithm for identifying negated findings and diseases in discharge summaries. JBiomed Inform 2001; 34: 301-10.
-
(2001)
JBiomed Inform
, vol.34
, pp. 301-310
-
-
Chapman, W.W.1
Bridewell, W.2
Hanbury, P.3
-
36
-
-
0028403632
-
A general natural-language text processor for clinical radiology
-
Friedman C, Alderson PO, Austin JH, et al. A general natural-language text processor for clinical radiology. J Am Med Inform Assoc 1994; 1: 161-74.
-
(1994)
J Am Med Inform Assoc
, vol.1
, pp. 161-174
-
-
Friedman, C.1
Alderson, P.O.2
Austin, J.H.3
-
39
-
-
84873650802
-
Mining skeletal phenotype descriptions from scientific literature
-
Groza T, Hunter J, Zankl A. Mining skeletal phenotype descriptions from scientific literature. PLoS One 2013; 8: e55656.
-
(2013)
PLoS One
, vol.8
, pp. e55656
-
-
Groza, T.1
Hunter, J.2
Zankl, A.3
-
41
-
-
78751642348
-
Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community
-
Schindelman G, et al. Worm Phenotype Ontology: Integrating phenotype data within and beyond the C. elegans community. BMC Bioinformatics 2011; 12: 32.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 32
-
-
Schindelman, G.1
-
42
-
-
0038670579
-
The human phenome project
-
Freimer N, Sabatti C. The human phenome project. Nat Genet 2003; 34: 15-21.
-
(2003)
Nat Genet
, vol.34
, pp. 15-21
-
-
Freimer, N.1
Sabatti, C.2
-
43
-
-
84949768868
-
A classification of existing phenotypical representations and methods for improvement
-
Mannheim, Germany
-
Oellrich A, Rebholz-Schuhmann D. A classification of existing phenotypical representations and methods for improvement. In Proceedingsof the 2nd OBMLWorkshop, Mannheim, Germany, 2010.
-
(2010)
Proceedingsof the 2nd OBMLWorkshop
-
-
Oellrich, A.1
Rebholz-Schuhmann, D.2
-
44
-
-
77349112447
-
Integrating phenotype ontologies across multiple species
-
Mungall CJ, Gkoutos GV, Smith CL, et al. Integrating phenotype ontologies across multiple species. Genome Biol 2010; 11: R2.
-
(2010)
Genome Biol
, vol.11
, pp. R2
-
-
Mungall, C.J.1
Gkoutos, G.V.2
Smith, C.L.3
-
45
-
-
84869772444
-
Three ontologies to define phenotype measurement data
-
Shimoyama M, Nigam R, McIntosh LS, et al. Three ontologies to define phenotype measurement data. Front Genet 2012; 3: 87.
-
(2012)
Front Genet
, vol.3
, pp. 87
-
-
Shimoyama, M.1
Nigam, R.2
Intosh, L.S.3
-
47
-
-
14544306487
-
A statistical approach to scanning the biomedical literature for pharmacogenetics knowledge
-
Rubin DL, Thorn CF, Klein TE, et al. A statistical approach to scanning the biomedical literature for pharmacogenetics knowledge. JAm Med Inform Assoc 2005; 12: 121-9.
-
(2005)
JAm Med Inform Assoc
, vol.12
, pp. 121-129
-
-
Rubin, D.L.1
Thorn, C.F.2
Klein, T.E.3
-
48
-
-
35948989284
-
The OBO Foundry: Coordinated evolution of ontologies to support biomedical data integration
-
Smith B, Ashburner M, Rosse C, et al. The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat Biotechnol 2007; 25: 1251-5.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 1251-1255
-
-
Smith, B.1
Ashburner, M.2
Rosse, C.3
-
49
-
-
84880562927
-
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
-
White JK, Gerdin AK, Karp NA, et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell 2013; 154: 452-64.
-
(2013)
Cell
, vol.154
, pp. 452-464
-
-
White, J.K.1
Gerdin, A.K.2
Karp, N.A.3
-
50
-
-
65549139325
-
Practical application ofontologies to annotate and analyse large scale raw mouse pheno-type data
-
Beck T, Morgan H, Blake A, et al. Practical application ofontologies to annotate and analyse large scale raw mouse pheno-type data. BMC Bioinformatics 2009; 10: S2.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. S2
-
-
Beck, T.1
Morgan, H.2
Blake, A.3
-
51
-
-
84880508099
-
PhenoTips: Patient phenotyping software for clinical and research use
-
Girdea M, Dumitriu S, Fiume M, et al. PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat 2013; 34: 1057-65.
-
(2013)
Hum Mutat
, vol.34
, pp. 1057-1065
-
-
Girdea, M.1
Dumitriu, S.2
Fiume, M.3
-
52
-
-
84901362119
-
Phenotype ontologies and crossspecies analysis for translational research
-
Robinson PN, Webber C. Phenotype ontologies and crossspecies analysis for translational research. PLoS Genet 2014; 10: e1004268.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004268
-
-
Robinson, P.N.1
Webber, C.2
-
53
-
-
74049094457
-
Challenges in phenotype definition in the whole-genome era: Multivariate models of memory and intelligence
-
Sabb FW, Burggren AC, Higier RG, et al. Challenges in phenotype definition in the whole-genome era: multivariate models of memory and intelligence. Neuroscience 2009; 164: 88-107.
-
(2009)
Neuroscience
, vol.164
, pp. 88-107
-
-
Sabb, F.W.1
Burggren, A.C.2
Higier, R.G.3
-
54
-
-
78149490620
-
Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): Architecture, component evaluation and applications
-
Savova GK, Masanz JJ, Ogren PV, et al. Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications. J Am Med Inform Assoc 2010; 17: 507-13.
-
(2010)
J Am Med Inform Assoc
, vol.17
, pp. 507-513
-
-
Savova, G.K.1
Masanz, J.J.2
Ogren, P.V.3
-
55
-
-
4544280638
-
Automated encoding of clinical documents based on natural language processing
-
Friedman C, Shagina L, Lussier Y, et al. Automated encoding of clinical documents based on natural language processing. J Am Med Inform Assoc 2004; 11: 392-42.
-
(2004)
J Am Med Inform Assoc
, vol.11
, pp. 392-442
-
-
Friedman, C.1
Shagina, L.2
Lussier, Y.3
-
56
-
-
80053292637
-
2010 i2b2/VA challenge on concepts, assertions, and relations in clinical text
-
Uzuner O, South BR, Shen S, et al. 2010 i2b2/VA challenge on concepts, assertions, and relations in clinical text. J Am Med Inform Assoc 2011; 18: 552-6.
-
(2011)
J Am Med Inform Assoc
, vol.18
, pp. 552-556
-
-
Uzuner, O.1
South, B.R.2
Shen, S.3
-
57
-
-
84886418080
-
Information Access Eualuation
-
Berlin Heidelberg; Springer
-
Suominen H, Salantera S, Velupillai S, et al. Information Access Eualuation. Multilinguality, Multimodality, and Visualization. Berlin Heidelberg; Springer, 2013, 212-31.
-
(2013)
Multilinguality, Multimodality, and Visualization
, pp. 212-231
-
-
Suominen, H.1
Salantera, S.2
Velupillai, S.3
-
58
-
-
84862267399
-
Argo: An integrative, interactive, text mining-based workbench supporting curation
-
bas010
-
Rak R, et al. Argo: an integrative, interactive, text mining-based workbench supporting curation. Database 2012; bas010.
-
(2012)
Database
-
-
Rak, R.1
-
59
-
-
84992345552
-
A strategy for annotating clinical records with phenotypic information relating to the chronic obstructive pulmonary disease
-
Boston, Massachusetts, USA
-
Fu X, Batista-Navarro RTB, Rak R, et al. A strategy for annotating clinical records with phenotypic information relating to the chronic obstructive pulmonary disease. In Proceedings of Phenotype Day at ISMB, Boston, Massachusetts, USA, 2014.
-
(2014)
Proceedings of Phenotype Day at ISMB
-
-
Fu, X.1
Batista-Navarro, R.T.B.2
Rak, R.3
-
60
-
-
84885391631
-
Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking
-
Collier N, Tran M, LeH, et al. Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking. PLoS One 2013; 8: e72965.
-
(2013)
PLoS One
, vol.8
, pp. e72965
-
-
Collier, N.1
Tran, M.2
Le, H.3
-
61
-
-
34249062098
-
Integration of mouse phenome data resources
-
Mouse Phenotype Database Integration Consortium
-
Mouse Phenotype Database Integration Consortium, Hancock JM, Adams NC, et al. Integration of mouse phenome data resources. Mamm Genome 2007; 18: 157-63.
-
(2007)
Mamm Genome
, vol.18
, pp. 157-163
-
-
Hancock, J.M.1
Adams, N.C.2
-
62
-
-
84855448103
-
Finding and sharing: New approaches to registries of databases and services for the biomedical sciences
-
baq014
-
Smedley D, Schofield P, Chen CK, et al. Finding and sharing: new approaches to registries of databases and services for the biomedical sciences. Database 2010; baq014.
-
(2010)
Database
-
-
Smedley, D.1
Schofield, P.2
Chen, C.K.3
-
64
-
-
84923169896
-
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
-
Köhler S, Doelken SC, Ruef BJ, et al. Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000Res 2013; 2: 30.
-
(2013)
F1000Res
, vol.2
, pp. 30
-
-
Köhler, S.1
Doelken, S.C.2
Ruef, B.J.3
-
65
-
-
84868548989
-
Crowdmap: Crowdsourcing Ontology Alignment with Microtasks
-
Springer: Berlin Heidelberg
-
Sarasua C, Simperl E, Noy NF. Crowdmap: Crowdsourcing Ontology Alignment with Microtasks. The Semantic Web-ISWC 2012, Springer: Berlin Heidelberg, 2012, 525-41.
-
(2012)
The Semantic Web-ISWC 2012
, pp. 525-541
-
-
Sarasua, C.1
Simperl, E.2
Noy, N.F.3
-
66
-
-
0345863927
-
The Unified Medical Language System (UMLS): Integrating biomedical terminology
-
Bodenreider O. The Unified Medical Language System (UMLS): integrating biomedical terminology. Nucleic Acids Res 2004; 32: D267-70.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. D267-D270
-
-
Bodenreider, O.1
-
68
-
-
78751480081
-
AgreementMaker: Efficient matching for large real-world schemas and ontologies
-
Lyon, France
-
Cruz IF, Antonelli FP, Stroe C. AgreementMaker: efficient matching for large real-world schemas and ontologies. In Proceedings of the VLDB Endowment, Lyon, France, 2009, Vol. 2, 1586-9.
-
(2009)
Proceedings of the VLDB Endowment
, vol.2
, pp. 1586-1589
-
-
Cruz, I.F.1
Antonelli, F.P.2
Stroe, C.3
-
70
-
-
84856670019
-
Re-thinking organisms: The impact of databases on model organism biology
-
Leonelli S, Ankeny RA. Re-thinking organisms: The impact of databases on model organism biology. Stud Hist Philos Biol Biomed Sci 2012; 43: 29-36.
-
(2012)
Stud Hist Philos Biol Biomed Sci
, vol.43
, pp. 29-36
-
-
Leonelli, S.1
Ankeny, R.A.2
-
71
-
-
84938806173
-
Linking gene expression to phenotypes via pathway information
-
Papatheodorou I, Oellrich A, Smedley D. Linking gene expression to phenotypes via pathway information. JBiomed Semant 2015; 6: 17.
-
(2015)
JBiomed Semant
, vol.6
, pp. 17
-
-
Papatheodorou, I.1
Oellrich, A.2
Smedley, D.3
-
72
-
-
70350474767
-
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
-
Köhler S, Schulz MH, Krawitz P, et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet 2009; 85: 457-64.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 457-464
-
-
Köhler, S.1
Schulz, M.H.2
Krawitz, P.3
-
73
-
-
84870615111
-
Decision support methods for finding phenotype-disorder associations in the bone dysplasia domain
-
Paul R, Groza T, Hunter J, et al. Decision support methods for finding phenotype-disorder associations in the bone dysplasia domain. PLoS One 2012; 7: e50614.
-
(2012)
PLoS One
, vol.7
, pp. e50614
-
-
Paul, R.1
Groza, T.2
Hunter, J.3
-
74
-
-
84899483170
-
Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain
-
Paul R, et al. Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain. J Biomed Inform 2013; 48: 73-83.
-
(2013)
J Biomed Inform
, vol.48
, pp. 73-83
-
-
Paul, R.1
-
75
-
-
84858433310
-
Personal omics profiling reveals dynamic molecular and medical phenotypes
-
Chen R, Mias GI, Li-Pook-Than J, et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 2012; 148: 1293-307.
-
(2012)
Cell
, vol.148
, pp. 1293-1307
-
-
Chen, R.1
Mias, G.I.2
Li-Pook-Than, J.3
-
76
-
-
84892959492
-
Improved exome prioritization of disease genes through cross-species phenotype comparison
-
Robinson PN, Köhler S, Oellrich A, et al. Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res 2014; 24: 340-8.
-
(2014)
Genome Res
, vol.24
, pp. 340-348
-
-
Robinson, P.N.1
Köhler, S.2
Oellrich, A.3
-
77
-
-
84907284564
-
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
-
Zemojtel T, Köhler S, Mackenroth L, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med 2014; 6: 252ra123.
-
(2014)
Sci Transl Med
, vol.6
, pp. 252ra123
-
-
Zemojtel, T.1
Köhler, S.2
Mackenroth, L.3
-
78
-
-
84890107642
-
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
-
Denny JC, Bastarache L, Ritchie MD, et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol 2013; 31: 1102-10.
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1102-1110
-
-
Denny, J.C.1
Bastarache, L.2
Ritchie, M.D.3
-
79
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362-7.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
-
80
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Welter D, MacArthur J, Morales J, et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 2014; 42: D1001-6.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D1001-D1006
-
-
Welter, D.1
McArthur, J.2
Morales, J.3
-
81
-
-
77952822074
-
PheWAS: Demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
-
Denny JC, Ritchie MD, Basford MA, et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics 2010; 26: 1205-10.
-
(2010)
Bioinformatics
, vol.26
, pp. 1205-1210
-
-
Denny, J.C.1
Ritchie, M.D.2
Basford, M.A.3
-
82
-
-
84873488838
-
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network
-
Pendergrass SA, Brown-Gentry K, Dudek SM, et al. Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PLoS Genet 2013; e1003087.
-
(2013)
PLoS Genet
, pp. e1003087
-
-
Pendergrass, S.A.1
Brown-Gentry, K.2
Dudek, S.M.3
-
83
-
-
84891858260
-
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
-
Shameer K, Denny JC, Ding K, et al. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet 2014; 133: 95-109.
-
(2014)
Hum Genet
, vol.133
, pp. 95-109
-
-
Shameer, K.1
Denny, J.C.2
Ding, K.3
-
84
-
-
84878252359
-
Ethnic differences in the relationship between insulin sensitivity and insulin response: A systematic review and meta-analysis
-
Kodama K, Tojjar D, Yamada S, et al. Ethnic differences in the relationship between insulin sensitivity and insulin response: a systematic review and meta-analysis. Diabetes Care 2013; 36: 1789-96.
-
(2013)
Diabetes Care
, vol.36
, pp. 1789-1796
-
-
Kodama, K.1
Tojjar, D.2
Yamada, S.3
-
85
-
-
84899859780
-
Disease risk factors identified through shared genetic architecture and electronic medical records
-
234ra57
-
Li L, Ruau DJ, Patel CJ, et al. Disease risk factors identified through shared genetic architecture and electronic medical records. Sci Transl Med 2014; 6: 234ra57.
-
(2014)
Sci Transl Med
, vol.6
-
-
Li, L.1
Ruau, D.J.2
Patel, C.J.3
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