-
1
-
-
0033988073
-
Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue
-
Cotton RGH: Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue. Human Mutation 2000, 15:4-6.
-
(2000)
Human Mutation
, vol.15
, pp. 4-6
-
-
Cotton, R.G.H.1
-
2
-
-
79954997174
-
LOVD v.2.0: the next generation in gene variant databases
-
Fokkema IFAC, Taschner PEM, Schaafsma GCP, Celli J, Laros JFJ, den Dunnen JT: LOVD v.2.0: the next generation in gene variant databases. Human Mutation 2011, 32:557-563.
-
(2011)
Human Mutation
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.A.C.1
Taschner, P.E.M.2
Schaafsma, G.C.P.3
Celli, J.4
Laros, J.F.J.5
den Dunnen, J.T.6
-
3
-
-
38149063754
-
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
-
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM: Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Human Mutation 2008, 29:6-13.
-
(2008)
Human Mutation
, vol.29
, pp. 6-13
-
-
Wildeman, M.1
van Ophuizen, E.2
den Dunnen, J.T.3
Taschner, P.E.M.4
-
4
-
-
0037464588
-
Institute USNHGR: A vision for the future of genomics research
-
Collins FS, Green ED, Guttmacher AE, Guyer MS, Institute USNHGR: A vision for the future of genomics research. Nature 2003, 422:835-847.
-
(2003)
Nature
, vol.422
, pp. 835-847
-
-
Collins, F.S.1
Green, E.D.2
Guttmacher, A.E.3
Guyer, M.S.4
-
5
-
-
84950242244
-
-
The Genome Reference Consortium. [http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/index.shtml].
-
-
-
-
6
-
-
79955550445
-
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
-
The EPC: A User's Guide to the Encyclopedia of DNA Elements (ENCODE). PLoS Biol 2011, 9.
-
(2011)
PLoS Biol
, pp. 9
-
-
-
7
-
-
0036079158
-
The Human Genome Browser at UCSC
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler , David: The Human Genome Browser at UCSC. Genome Res 2002, 12:996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
8
-
-
46349104730
-
Life Sciences and the web: a new era for collaboration
-
Sagotsky JA, Zhang L, Wang Z, Martin S, Deisboeck TS: Life Sciences and the web: a new era for collaboration. Molecular systems biology 2008, 4:201.
-
(2008)
Molecular systems biology
, vol.4
, pp. 201
-
-
Sagotsky, J.A.1
Zhang, L.2
Wang, Z.3
Martin, S.4
Deisboeck, T.S.5
-
9
-
-
84950276593
-
Semantic Disclosure in an e-Science Environment
-
Semantic e-Science Edited by Chen H, Wang Y, Cheung K-H: Springer US;, Annals of Information Systems.
-
Marshall MS, Roos M, Meij E, Katrenko S, Hage W, Adriaans P: Semantic Disclosure in an e-Science Environment. Semantic e-Science Edited by Chen H, Wang Y, Cheung K-H: Springer US; 2010: 11:29-65, Annals of Information Systems.
-
(2010)
, vol.11
, pp. 29-65
-
-
Marshall, M.S.1
Roos, M.2
Meij, E.3
Katrenko, S.4
Hage, W.5
Adriaans, P.6
-
10
-
-
36448963071
-
A semantic web approach applied to integrative bioinformatics experimentation: a biological use case with genomics data
-
Post LJG, Roos M, Marshall MS, Driel Rv, Breit TM: A semantic web approach applied to integrative bioinformatics experimentation: a biological use case with genomics data. Bioinformatics 2007, 23:3080-3087.
-
(2007)
Bioinformatics
, vol.23
, pp. 3080-3087
-
-
Post, L.J.G.1
Roos, M.2
Marshall, M.S.3
Driel, R.V.4
Breit, T.M.5
-
12
-
-
67449132007
-
Biological knowledge management: the emerging role of the Semantic Web technologies
-
Antezana E, Kuiper M, Mironov V: Biological knowledge management: the emerging role of the Semantic Web technologies. Briefings in Bioinformatics 2009, 10:392-407.
-
(2009)
Briefings in Bioinformatics
, vol.10
, pp. 392-407
-
-
Antezana, E.1
Kuiper, M.2
Mironov, V.3
-
13
-
-
84867449920
-
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
-
Patrinos GP, Cooper DN, van Mulligen E, Gkantouna V, Tzimas G, Tatum Z, Schultes E, Roos M, Mons B: Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum Mutat 2012, 33:1503-1512.
-
(2012)
Hum Mutat
, vol.33
, pp. 1503-1512
-
-
Patrinos, G.P.1
Cooper, D.N.2
van Mulligen, E.3
Gkantouna, V.4
Tzimas, G.5
Tatum, Z.6
Schultes, E.7
Roos, M.8
Mons, B.9
-
16
-
-
0001835656
-
Formal Ontology and Information Systems
-
(FOIS'98), Trento, Italy, 6-8 June 1998, of Frontiers in Artificial Intelligence and Applications
-
Guarino N: Formal Ontology and Information Systems. Formal Ontology in Information Systems: Proceedings of the First International Conference (FOIS'98), Trento, Italy, 6-8 June 1998, of Frontiers in Artificial Intelligence and Applications 1998, 46:3-15.
-
(1998)
Formal Ontology in Information Systems: Proceedings of the First International Conference
, vol.46
, pp. 3-15
-
-
Guarino, N.1
-
17
-
-
33646779551
-
Semantic Foundations of Medical Information Systems Based on Top-Level Ontologies
-
Herre H, Heller B: Semantic Foundations of Medical Information Systems Based on Top-Level Ontologies. Journal of Knowledge-Based Systems 2006, 19:107-115.
-
(2006)
Journal of Knowledge-Based Systems
, vol.19
, pp. 107-115
-
-
Herre, H.1
Heller, B.2
-
19
-
-
35948989284
-
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration
-
Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W, Goldberg LJ, Eilbeck K, Ireland A, Mungall CJ, et al: The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration. Nat Biotech 2007, 25:1251-1255.
-
(2007)
Nat Biotech
, vol.25
, pp. 1251-1255
-
-
Smith, B.1
Ashburner, M.2
Rosse, C.3
Bard, J.4
Bug, W.5
Ceusters, W.6
Goldberg, L.J.7
Eilbeck, K.8
Ireland, A.9
Mungall, C.J.10
-
21
-
-
84950299708
-
-
Information Artifact Ontology. [https://code.google.com/p/information-artifact-ontology].
-
-
-
-
22
-
-
22044443709
-
The Sequence Ontology: a tool for the unification of genome annotations
-
Eilbeck K, Lewis SE, Mungall CJ, Yandell M, Stein L, Durbin R, Ashburner M: The Sequence Ontology: a tool for the unification of genome annotations. Genome Biology 2005, 6.
-
(2005)
Genome Biology
, pp. 6
-
-
Eilbeck, K.1
Lewis, S.E.2
Mungall, C.J.3
Yandell, M.4
Stein, L.5
Durbin, R.6
Ashburner, M.7
-
24
-
-
22044433259
-
Relations in biomedical ontologies
-
Smith B, Ceusters W, Klagges B, Köhler J, Kumar A, Lomax J, Mungall C, Neuhaus F, Rector AL, Rosse C: Relations in biomedical ontologies. Genome Biology 2005, 6.
-
(2005)
Genome Biology
, pp. 6
-
-
Smith, B.1
Ceusters, W.2
Klagges, B.3
Köhler, J.4
Kumar, A.5
Lomax, J.6
Mungall, C.7
Neuhaus, F.8
Rector, A.L.9
Rosse, C.10
-
28
-
-
84930678660
-
-
bioRxiv
-
Bolleman J, Mungall CJ, Strozzi F, Baran J, Dumontier M, Bonnal RJP, Buels R, Hoehndorf R, Fujisawa T, Katayama T, Cock PJA: FALDO: A semantic standard for describing the location of nucleotide and protein feature annotation. bioRxiv 2014.
-
(2014)
FALDO: A semantic standard for describing the location of nucleotide and protein feature annotation
-
-
Bolleman, J.1
Mungall, C.J.2
Strozzi, F.3
Baran, J.4
Dumontier, M.5
Bonnal, R.J.P.6
Buels, R.7
Hoehndorf, R.8
Fujisawa, T.9
Katayama, T.10
Cock, P.J.A.11
-
29
-
-
33845423497
-
Using Semantic Web Tools to Integrate Experimental Measurement Data on Our Own Terms
-
Springer Berlin Heidelberg; Meersman R, Tari Z, Herrero P, Lecture Notes in Computer Science.
-
Marshall MS, Post L, Roos M, Breit TM: Using Semantic Web Tools to Integrate Experimental Measurement Data on Our Own Terms. In On the Move to Meaningful Internet Systems 2006: OTM 2006 Workshops. Springer Berlin Heidelberg; Meersman R, Tari Z, Herrero P 2006:679-688, Lecture Notes in Computer Science.
-
(2006)
On the Move to Meaningful Internet Systems 2006: OTM 2006 Workshops
, pp. 679-688
-
-
Marshall, M.S.1
Post, L.2
Roos, M.3
Breit, T.M.4
|