TY - JOUR AU - Cotton, R. G. H. PY - 2000 DA - 2000// TI - Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue JO - Human Mutation VL - 15 UR - https://doi.org/3.0.CO;2-T DO - 3.0.CO;2-T ID - Cotton2000 ER - TY - JOUR AU - Fokkema, I. F. A. C. AU - Taschner, P. E. M. AU - Schaafsma, G. C. P. AU - Celli, J. AU - Laros, J. F. J. AU - den Dunnen, J. T. PY - 2011 DA - 2011// TI - LOVD v.2.0: the next generation in gene variant databases JO - Human Mutation VL - 32 UR - https://doi.org/10.1002/humu.21438 DO - 10.1002/humu.21438 ID - Fokkema2011 ER - TY - JOUR AU - Wildeman, M. AU - van Ophuizen, E. AU - den Dunnen, J. T. AU - Taschner, P. E. M. PY - 2008 DA - 2008// TI - Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker JO - Human Mutation VL - 29 UR - https://doi.org/10.1002/humu.20654 DO - 10.1002/humu.20654 ID - Wildeman2008 ER - TY - JOUR AU - Collins, F. S. AU - Green, E. D. AU - Guttmacher, A. E. AU - Guyer, M. S. PY - 2003 DA - 2003// TI - A vision for the future of genomics research JO - Nature VL - 422 UR - https://doi.org/10.1038/nature01626 DO - 10.1038/nature01626 ID - Collins2003 ER - TY - STD TI - The Genome Reference Consortium. [http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/index.shtml] UR - http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/index.shtml ID - ref5 ER - TY - CHAP AU - The, E. P. C. PY - 2011 DA - 2011// TI - A User's Guide to the Encyclopedia of DNA Elements (ENCODE) BT - PLoS Biol ID - The2011 ER - TY - JOUR AU - Kent, W. J. AU - Sugnet, C. W. AU - Furey, T. S. AU - Roskin, K. M. AU - Pringle, T. H. AU - Zahler, A. M. AU - Haussler AU - David PY - 2002 DA - 2002// TI - The Human Genome Browser at UCSC JO - Genome Res VL - 12 UR - https://doi.org/10.1101/gr.229102. Article published online before print in May 2002 DO - 10.1101/gr.229102. Article published online before print in May 2002 ID - Kent2002 ER - TY - JOUR AU - Sagotsky, J. A. AU - Zhang, L. AU - Wang, Z. AU - Martin, S. AU - Deisboeck, T. S. PY - 2008 DA - 2008// TI - Life Sciences and the web: a new era for collaboration JO - Molecular systems biology VL - 4 UR - https://doi.org/10.1038/msb.2008.39 DO - 10.1038/msb.2008.39 ID - Sagotsky2008 ER - TY - JOUR AU - Marshall, M. S. AU - Roos, M. AU - Meij, E. AU - Katrenko, S. AU - Hage, W. AU - Adriaans, P. PY - 2010 DA - 2010// TI - Semantic Disclosure in an e-Science Environment JO - Semantic e-Science Edited by Chen H, Wang Y, Cheung K-H: Springer US; VL - 11 ID - Marshall2010 ER - TY - JOUR AU - Post, L. J. G. AU - Roos, M. AU - Marshall, M. S. AU - Driel, R. v. AU - Breit, T. M. PY - 2007 DA - 2007// TI - A semantic web approach applied to integrative bioinformatics experimentation: a biological use case with genomics data JO - Bioinformatics VL - 23 UR - https://doi.org/10.1093/bioinformatics/btm461 DO - 10.1093/bioinformatics/btm461 ID - Post2007 ER - TY - JOUR AU - Neumann, E. K. AU - Miller, E. AU - Wilbanks, J. PY - 2004 DA - 2004// TI - What the semantic web could do for the life sciences JO - Drug Discovery Today: BIOSILICO VL - 2 UR - https://doi.org/10.1016/S1741-8364(04)02420-5 DO - 10.1016/S1741-8364(04)02420-5 ID - Neumann2004 ER - TY - JOUR AU - Antezana, E. AU - Kuiper, M. AU - Mironov, V. PY - 2009 DA - 2009// TI - Biological knowledge management: the emerging role of the Semantic Web technologies JO - Briefings in Bioinformatics VL - 10 UR - https://doi.org/10.1093/bib/bbp024 DO - 10.1093/bib/bbp024 ID - Antezana2009 ER - TY - JOUR AU - Patrinos, G. P. AU - Cooper, D. N. AU - van Mulligen, E. AU - Gkantouna, V. AU - Tzimas, G. AU - Tatum, Z. AU - Schultes, E. AU - Roos, M. AU - Mons, B. PY - 2012 DA - 2012// TI - Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain JO - Hum Mutat VL - 33 UR - https://doi.org/10.1002/humu.22144 DO - 10.1002/humu.22144 ID - Patrinos2012 ER - TY - JOUR AU - Zappa, A. AU - Splendiani, A. AU - Romano, P. PY - 2012 DA - 2012// TI - Towards linked open gene mutations data JO - BMC Bioinformatics VL - 13 UR - https://doi.org/10.1186/1471-2105-13-S4-S7 DO - 10.1186/1471-2105-13-S4-S7 ID - Zappa2012 ER - TY - STD TI - Design Issues: Linked Data. [http://www.w3.org/DesignIssues/LinkedData.html] UR - http://www.w3.org/DesignIssues/LinkedData.html ID - ref15 ER - TY - JOUR AU - Guarino, N. PY - 1998 DA - 1998// TI - Formal Ontology and Information Systems JO - 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 VL - 46 ID - Guarino1998 ER - TY - JOUR AU - Herre, H. AU - Heller, B. PY - 2006 DA - 2006// TI - Semantic Foundations of Medical Information Systems Based on Top-Level Ontologies JO - Journal of Knowledge-Based Systems VL - 19 UR - https://doi.org/10.1016/j.knosys.2005.10.002 DO - 10.1016/j.knosys.2005.10.002 ID - Herre2006 ER - TY - CHAP AU - Smith, B. AU - Williams, J. AU - Schulze-Kremer, S. PY - 2003 DA - 2003// TI - The Ontology of the Gene Ontology BT - AMIA Annu Symp Proc ID - Smith2003 ER - TY - JOUR AU - Smith, B. AU - Ashburner, M. AU - Rosse, C. AU - Bard, J. AU - Bug, W. AU - Ceusters, W. AU - Goldberg, L. J. AU - Eilbeck, K. AU - Ireland, A. AU - Mungall, C. J. PY - 2007 DA - 2007// TI - The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration JO - Nat Biotech VL - 25 UR - https://doi.org/10.1038/nbt1346 DO - 10.1038/nbt1346 ID - Smith2007 ER - TY - JOUR AU - Grenon, P. AU - Smith, B. AU - Goldberg, L. PY - 2004 DA - 2004// TI - Biodynamic ontology: applying BFO in the biomedical domain JO - Studies in health technology and informatics VL - 102 ID - Grenon2004 ER - TY - STD TI - Information Artifact Ontology. [https://code.google.com/p/information-artifact-ontology] UR - https://code.google.com/p/information-artifact-ontology ID - ref21 ER - TY - CHAP AU - Eilbeck, K. AU - Lewis, S. E. AU - Mungall, C. J. AU - Yandell, M. AU - Stein, L. AU - Durbin, R. AU - Ashburner, M. PY - 2005 DA - 2005// TI - The Sequence Ontology: a tool for the unification of genome annotations BT - Genome Biology ID - Eilbeck2005 ER - TY - STD TI - Genome, Gene, Interval and Ontology. [https://code.google.com/p/ontology-for-genetic-interval] UR - https://code.google.com/p/ontology-for-genetic-interval ID - ref23 ER - TY - CHAP AU - Smith, B. AU - Ceusters, W. AU - Klagges, B. AU - Köhler, J. AU - Kumar, A. AU - Lomax, J. AU - Mungall, C. AU - Neuhaus, F. AU - Rector, A. L. AU - Rosse, C. PY - 2005 DA - 2005// TI - Relations in biomedical ontologies BT - Genome Biology ID - Smith2005 ER - TY - JOUR AU - Mungall, C. J. AU - Batchelor, C. AU - Eilbeck, K. PY - 2011 DA - 2011// TI - Evolution of the Sequence Ontology terms and relationships JO - Journal of Biomedical Informatics VL - 44 UR - https://doi.org/10.1016/j.jbi.2010.03.002 DO - 10.1016/j.jbi.2010.03.002 ID - Mungall2011 ER - TY - CHAP AU - Hoehndorf, R. AU - Kelso, J. AU - Herre, H. PY - 2009 DA - 2009// TI - The ontology of biological sequences BT - BMC Bioinformatics ID - Hoehndorf2009 ER - TY - STD TI - Bada M, Eilbeck K: Efforts toward a More Consistent and Interoperable Sequence Ontology. International Conference on Biomedical Ontology;2012. ID - ref27 ER - TY - CHAP AU - Bolleman, J. AU - Mungall, C. J. AU - Strozzi, F. AU - Baran, J. AU - Dumontier, M. AU - Bonnal, R. J. P. AU - Buels, R. AU - Hoehndorf, R. AU - Fujisawa, T. AU - Katayama, T. AU - Cock, P. J. A. PY - 2014 DA - 2014// TI - FALDO: A semantic standard for describing the location of nucleotide and protein feature annotation BT - bioRxiv ID - Bolleman2014 ER - TY - CHAP AU - Marshall, M. S. AU - Post, L. AU - Roos, M. AU - Breit, T. M. ED - Meersman, R. ED - Tari, Z. ED - Herrero, P. PY - 2006 DA - 2006// TI - Using Semantic Web Tools to Integrate Experimental Measurement Data on Our Own Terms BT - On the Move to Meaningful Internet Systems 2006: OTM 2006 Workshops UR - https://doi.org/10.1007/11915034_92 DO - 10.1007/11915034_92 ID - Marshall2006 ER - TY - CHAP AU - Dumontier, M. AU - Hoehndorf, R. PY - 2010 DA - 2010// BT - Realism for scientific ontologies.International Conference on Formal Ontology in Information Systems ID - Dumontier2010 ER -