TY - JOUR AU - Botstein, D. AU - Risch, N. PY - 2003 DA - 2003// TI - Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease JO - Nat Genet VL - 33 UR - https://doi.org/10.1038/ng1090 DO - 10.1038/ng1090 ID - Botstein2003 ER - TY - JOUR AU - Perez-Iratxeta, C. AU - Bork, P. AU - Andrade, M. A. PY - 2002 DA - 2002// TI - Association of genes to genetically inherited diseases using data mining JO - Nat Genet VL - 31 ID - Perez-Iratxeta2002 ER - TY - JOUR AU - Meyre, D. AU - Delplanque, J. AU - Chevre, J. C. AU - Lecoeur, C. AU - Lobbens, S. AU - Gallina, S. AU - Durand, E. AU - Vatin, V. AU - Degraeve, F. AU - Proenca, C. PY - 2009 DA - 2009// TI - Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations JO - Nat Genet VL - 41 UR - https://doi.org/10.1038/ng.301 DO - 10.1038/ng.301 ID - Meyre2009 ER - TY - JOUR AU - Bamshad, M. J. AU - Ng, S. B. AU - Bigham, A. W. AU - Tabor, H. K. AU - Emond, M. J. AU - Nickerson, D. A. AU - Shendure, J. PY - 2011 DA - 2011// TI - Exome sequencing as a tool for Mendelian disease gene discovery JO - Nature Reviews Genetics VL - 12 UR - https://doi.org/10.1038/nrg3031 DO - 10.1038/nrg3031 ID - Bamshad2011 ER - TY - JOUR AU - Altshuler, D. AU - Daly, M. AU - Kruglyak, L. PY - 2000 DA - 2000// TI - Guilt by association JO - Nature genetics VL - 26 UR - https://doi.org/10.1038/79839 DO - 10.1038/79839 ID - Altshuler2000 ER - TY - JOUR AU - Emilsson, V. AU - Thorleifsson, G. AU - Zhang, B. AU - Leonardson, A. S. AU - Zink, F. AU - Zhu, J. AU - Carlson, S. AU - Helgason, A. AU - Walters, G. B. AU - Gunnarsdottir, S. PY - 2008 DA - 2008// TI - Genetics of gene expression and its effect on disease JO - Nature VL - 452 UR - https://doi.org/10.1038/nature06758 DO - 10.1038/nature06758 ID - Emilsson2008 ER - TY - JOUR AU - Tiffin, N. AU - Kelso, J. F. AU - Powell, A. R. AU - Pan, H. AU - Bajic, V. B. AU - Hide, W. A. PY - 2005 DA - 2005// TI - Integration of text- and data-mining using ontologies successfully selects disease gene candidates JO - Nucleic acids research VL - 33 UR - https://doi.org/10.1093/nar/gki296 DO - 10.1093/nar/gki296 ID - Tiffin2005 ER - TY - JOUR AU - Adie, E. A. AU - Adams, R. R. AU - Evans, K. L. AU - Porteous, D. J. AU - Pickard, B. S. PY - 2005 DA - 2005// TI - Speeding disease gene discovery by sequence based candidate prioritization JO - BMC bioinformatics VL - 6 UR - https://doi.org/10.1186/1471-2105-6-55 DO - 10.1186/1471-2105-6-55 ID - Adie2005 ER - TY - JOUR AU - Köhler, S. AU - Bauer, S. AU - Horn, D. AU - Robinson, P. N. PY - 2008 DA - 2008// TI - Walking the interactome for prioritization of candidate disease genes JO - The American Journal of Human Genetics VL - 82 UR - https://doi.org/10.1016/j.ajhg.2008.02.013 DO - 10.1016/j.ajhg.2008.02.013 ID - Köhler2008 ER - TY - JOUR AU - Freudenberg, J. AU - Propping, P. PY - 2002 DA - 2002// TI - A similarity-based method for genome-wide prediction of disease-relevant human genes JO - Bioinformatics VL - 18 UR - https://doi.org/10.1093/bioinformatics/18.suppl_2.S110 DO - 10.1093/bioinformatics/18.suppl_2.S110 ID - Freudenberg2002 ER - TY - JOUR AU - Turner, F. S. AU - Clutterbuck, D. R. AU - Semple, C. A. PY - 2003 DA - 2003// TI - POCUS: mining genomic sequence annotation to predict disease genes JO - Genome biology VL - 4 UR - https://doi.org/10.1186/gb-2003-4-11-r75 DO - 10.1186/gb-2003-4-11-r75 ID - Turner2003 ER - TY - JOUR AU - Lopez-Bigas, N. AU - Ouzounis, C. A. PY - 2004 DA - 2004// TI - Genome-wide identification of genes likely to be involved in human genetic disease JO - Nucleic acids research VL - 32 UR - https://doi.org/10.1093/nar/gkh605 DO - 10.1093/nar/gkh605 ID - Lopez-Bigas2004 ER - TY - JOUR AU - Aerts, S. AU - Lambrechts, D. AU - Maity, S. AU - Van Loo, P. AU - Coessens, B. AU - De Smet, F. AU - Tranchevent, L. C. AU - De Moor, B. AU - Marynen, P. AU - Hassan, B. PY - 2006 DA - 2006// TI - Gene prioritization through genomic data fusion JO - Nat Biotechnol VL - 24 UR - https://doi.org/10.1038/nbt1203 DO - 10.1038/nbt1203 ID - Aerts2006 ER - TY - JOUR AU - Hamosh, A. AU - Scott, A. F. AU - Amberger, J. S. AU - Bocchini, C. A. AU - McKusick, V. A. PY - 2005 DA - 2005// TI - Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders JO - Nucleic acids research VL - 33 ID - Hamosh2005 ER - TY - JOUR AU - Lage, K. AU - Karlberg, E. O. AU - Storling, Z. M. AU - Olason, P. I. AU - Pedersen, A. G. AU - Rigina, O. AU - Hinsby, A. M. AU - Tumer, Z. AU - Pociot, F. AU - Tommerup, N. PY - 2007 DA - 2007// TI - A human phenome-interactome network of protein complexes implicated in genetic disorders JO - Nat Biotechnol VL - 25 UR - https://doi.org/10.1038/nbt1295 DO - 10.1038/nbt1295 ID - Lage2007 ER - TY - JOUR AU - Wu, X. AU - Jiang, R. AU - Zhang, M. Q. AU - Li, S. PY - 2008 DA - 2008// TI - Network-based global inference of human disease genes JO - Mol Syst Biol VL - 4 UR - https://doi.org/10.1038/msb.2008.27 DO - 10.1038/msb.2008.27 ID - Wu2008 ER - TY - JOUR AU - Wu, X. AU - Liu, Q. AU - Jiang, R. PY - 2009 DA - 2009// TI - Align human interactome with phenome to identify causative genes and networks underlying disease families JO - Bioinformatics VL - 25 UR - https://doi.org/10.1093/bioinformatics/btn593 DO - 10.1093/bioinformatics/btn593 ID - Wu2009 ER - TY - JOUR AU - Li, Y. AU - Patra, J. C. PY - 2010 DA - 2010// TI - Genome-wide inferring gene-phenotype relationship by walking on the heterogeneous network JO - Bioinformatics VL - 26 UR - https://doi.org/10.1093/bioinformatics/btq108 DO - 10.1093/bioinformatics/btq108 ID - Li2010 ER - TY - JOUR AU - Vanunu, O. AU - Magger, O. AU - Ruppin, E. AU - Shlomi, T. AU - Sharan, R. PY - 2010 DA - 2010// TI - Associating genes and protein complexes with disease via network propagation JO - PLoS computational biology VL - 6 UR - https://doi.org/10.1371/journal.pcbi.1000641 DO - 10.1371/journal.pcbi.1000641 ID - Vanunu2010 ER - TY - JOUR AU - Chen, Y. AU - Jiang, T. AU - Jiang, R. PY - 2011 DA - 2011// TI - Uncover disease genes by maximizing information flow in the phenome-interactome network JO - Bioinformatics VL - 27 UR - https://doi.org/10.1093/bioinformatics/btr213 DO - 10.1093/bioinformatics/btr213 ID - Chen2011 ER - TY - JOUR AU - van Driel, M. A. AU - Bruggeman, J. AU - Vriend, G. AU - Brunner, H. G. AU - Leunissen, J. A. PY - 2006 DA - 2006// TI - A text-mining analysis of the human phenome JO - European journal of human genetics: EJHG VL - 14 UR - https://doi.org/10.1038/sj.ejhg.5201585 DO - 10.1038/sj.ejhg.5201585 ID - van Driel2006 ER - TY - STD TI - Keshava Prasad TS, Goel R, Kandasamy K, Keerthikumar S, Kumar S, Mathivanan S, Telikicherla D, Raju R, Shafreen B, Venugopal A, et al: Human Protein Reference Database--2009 update. Nucleic acids research. 2009, D767-772. 37 Database ID - ref22 ER - TY - JOUR AU - Lindberg, D. A. AU - Humphreys, B. L. AU - McCray, A. T. PY - 1993 DA - 1993// TI - The Unified Medical Language System JO - Methods of information in medicine VL - 32 ID - Lindberg1993 ER - TY - JOUR AU - Allen, A. S. AU - Berkovic, S. F. AU - Cossette, P. AU - Delanty, N. AU - Dlugos, D. AU - Eichler, E. E. AU - Epstein, M. P. AU - Glauser, T. AU - Goldstein, D. B. AU - Han, Y. PY - 2013 DA - 2013// TI - De novo mutations in epileptic encephalopathies JO - Nature VL - 501 UR - https://doi.org/10.1038/nature12439 DO - 10.1038/nature12439 ID - Allen2013 ER - TY - CHAP AU - Aronson, A. R. PY - 2001 DA - 2001// TI - Effective mapping of biomedical text to the UMLS Metathesaurus: the MetaMap program BT - Proceedings/AMIA Annual Symposium AMIA Symposium ID - Aronson2001 ER - TY - JOUR AU - Su, A. I. AU - Wiltshire, T. AU - Batalov, S. AU - Lapp, H. AU - Ching, K. A. AU - Block, D. AU - Zhang, J. AU - Soden, R. AU - Hayakawa, M. AU - Kreiman, G. PY - 2004 DA - 2004// TI - A gene atlas of the mouse and human protein-encoding transcriptomes JO - Proc Natl Acad Sci USA VL - 101 UR - https://doi.org/10.1073/pnas.0400782101 DO - 10.1073/pnas.0400782101 ID - Su2004 ER - TY - JOUR AU - Ashburner, M. AU - Ball, C. A. AU - Blake, J. A. AU - Botstein, D. AU - Butler, H. AU - Cherry, J. M. AU - Davis, A. P. AU - Dolinski, K. AU - Dwight, S. S. AU - Eppig, J. T. PY - 2000 DA - 2000// TI - Gene ontology: tool for the unification of biology. The Gene Ontology Consortium JO - Nat Genet VL - 25 UR - https://doi.org/10.1038/75556 DO - 10.1038/75556 ID - Ashburner2000 ER - TY - JOUR AU - Jiang, R. AU - Gan, M. AU - He, P. PY - 2011 DA - 2011// TI - Constructing a gene semantic similarity network for the inference of disease genes JO - BMC systems biology VL - 5 UR - https://doi.org/10.1186/1752-0509-5-S2-S2 DO - 10.1186/1752-0509-5-S2-S2 ID - Jiang2011 ER - TY - JOUR AU - Gan, M. PY - 2014 DA - 2014// TI - Correlating information contents of gene ontology terms to infer semantic similarity of gene products JO - Computational and mathematical methods in medicine VL - 2014 UR - https://doi.org/10.1155/2014/891842 DO - 10.1155/2014/891842 ID - Gan2014 ER - TY - JOUR AU - Kanehisa, M. AU - Goto, S. PY - 2000 DA - 2000// TI - KEGG: kyoto encyclopedia of genes and genomes JO - Nucleic acids research VL - 28 UR - https://doi.org/10.1093/nar/28.1.27 DO - 10.1093/nar/28.1.27 ID - Kanehisa2000 ER - TY - STD TI - UniProt C: The Universal Protein Resource (UniProt) in 2010. Nucleic acids research. 2010, D142-148. 38 Database ID - ref31 ER - TY - JOUR AU - Li, W. AU - McWilliam, H. AU - Goujon, M. AU - Cowley, A. AU - Lopez, R. AU - Pearson, W. R. PY - 2012 DA - 2012// TI - PSI-Search: iterative HOE-reduced profile SSEARCH searching JO - Bioinformatics VL - 28 UR - https://doi.org/10.1093/bioinformatics/bts240 DO - 10.1093/bioinformatics/bts240 ID - Li2012 ER - TY - STD TI - Finn RD, Mistry J, Tate J, Coggill P, Heger A, Pollington JE, Gavin OL, Gunasekaran P, Ceric G, Forslund K, et al: The Pfam protein families database. Nucleic acids research. 2010, D211-222. 38 Database ID - ref33 ER - TY - JOUR AU - Snel, B. AU - Lehmann, G. AU - Bork, P. AU - Huynen, M. A. PY - 2000 DA - 2000// TI - STRING: a web-server to retrieve and display the repeatedly occurring neighbourhood of a gene JO - Nucleic acids research VL - 28 UR - https://doi.org/10.1093/nar/28.18.3442 DO - 10.1093/nar/28.18.3442 ID - Snel2000 ER - TY - JOUR AU - Matys, V. AU - Fricke, E. AU - Geffers, R. AU - Gossling, E. AU - Haubrock, M. AU - Hehl, R. AU - Hornischer, K. AU - Karas, D. AU - Kel, A. E. AU - Kel-Margoulis, O. V. PY - 2003 DA - 2003// TI - TRANSFAC: transcriptional regulation, from patterns to profiles JO - Nucleic acids research VL - 31 UR - https://doi.org/10.1093/nar/gkg108 DO - 10.1093/nar/gkg108 ID - Matys2003 ER - TY - JOUR AU - Yang, J. J. PY - 2010 DA - 2010// TI - Distribution of Fisher's combination statistic when the tests are dependent JO - Journal of Statistical Computation and Simulation VL - 80 UR - https://doi.org/10.1080/00949650802412607 DO - 10.1080/00949650802412607 ID - Yang2010 ER - TY - CHAP AU - Storey, J. D. PY - 2003 DA - 2003// TI - The positive false discovery rate: A Bayesian interpretation and the q-value BT - Annals of Statistics ID - Storey2003 ER - TY - CHAP AU - Benjamini, Y. AU - Hochberg, Y. PY - 1995 DA - 1995// TI - Controlling the false discovery rate: a practical and powerful approach to multiple testing BT - Journal of the Royal Statistical Society Series B (Methodological) ID - Benjamini1995 ER - TY - JOUR AU - Haider, S. AU - Ballester, B. AU - Smedley, D. AU - Zhang, J. AU - Rice, P. AU - Kasprzyk, A. PY - 2009 DA - 2009// TI - BioMart Central Portal--unified access to biological data JO - Nucleic acids research VL - 37 UR - https://doi.org/10.1093/nar/gkp265 DO - 10.1093/nar/gkp265 ID - Haider2009 ER -