{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:00:59Z","timestamp":1778817659431,"version":"3.51.4"},"reference-count":55,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T00:00:00Z","timestamp":1245974400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1000534","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T21:39:32Z","timestamp":1245965972000},"page":"e1000534","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":352,"title":["Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions"],"prefix":"10.1371","volume":"5","author":[{"given":"Soumya","family":"Raychaudhuri","sequence":"first","affiliation":[]},{"given":"Robert M.","family":"Plenge","sequence":"additional","affiliation":[]},{"given":"Elizabeth J.","family":"Rossin","sequence":"additional","affiliation":[]},{"given":"Aylwin C. Y.","family":"Ng","sequence":"additional","affiliation":[]},{"name":"International Schizophrenia Consortium","sequence":"additional","affiliation":[]},{"given":"Shaun M.","family":"Purcell","sequence":"additional","affiliation":[]},{"given":"Pamela","family":"Sklar","sequence":"additional","affiliation":[]},{"given":"Edward M.","family":"Scolnick","sequence":"additional","affiliation":[]},{"given":"Ramnik J.","family":"Xavier","sequence":"additional","affiliation":[]},{"given":"David","family":"Altshuler","sequence":"additional","affiliation":[]},{"given":"Mark J.","family":"Daly","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2009,6,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/nature05911","article-title":"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.","volume":"447","year":"2007","journal-title":"Nature"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1038\/ng.122","article-title":"Many sequence variants affecting diversity of adult human height.","volume":"40","author":"DF Gudbjartsson","year":"2008","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/ng.125","article-title":"Identification of ten loci associated with height highlights new biological pathways in human growth.","volume":"40","author":"G Lettre","year":"2008","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng.121","article-title":"Genome-wide association analysis identifies 20 loci that influence adult height.","volume":"40","author":"MN Weedon","year":"2008","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.75","article-title":"Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.","volume":"40","author":"S Kathiresan","year":"2008","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/ng.76","article-title":"Newly identified loci that influence lipid concentrations and risk of coronary artery disease.","volume":"40","author":"CJ Willer","year":"2008","journal-title":"Nat Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1056\/NEJMoa075974","article-title":"Association between Microdeletion and Microduplication at 16p11.2 and Autism.","volume":"358","author":"LA Weiss","year":"2008","journal-title":"N Engl J Med"},{"key":"ref8","first-page":"237","article-title":"Rare chromosomal deletions and duplications increase risk of schizophrenia.","year":"2008","journal-title":"Nature"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1126\/science.1155174","article-title":"Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.","volume":"320","author":"T Walsh","year":"2008","journal-title":"Science"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/ng.162","article-title":"Strong association of de novo copy number mutations with sporadic schizophrenia.","volume":"40","author":"B Xu","year":"2008","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1101\/gr.075622.107","article-title":"Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network.","volume":"18","author":"I Iossifov","year":"2008","journal-title":"Genome Res"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"15148","DOI":"10.1073\/pnas.0404315101","article-title":"Molecular triangulation: bridging linkage and molecular-network information for identifying candidate genes in Alzheimer's disease.","volume":"101","author":"M Krauthammer","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/nbt1295","article-title":"A human phenome-interactome network of protein complexes implicated in genetic disorders.","volume":"25","author":"K Lage","year":"2007","journal-title":"Nat Biotechnol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/ng895","article-title":"Association of genes to genetically inherited diseases using data mining.","volume":"31","author":"C Perez-Iratxeta","year":"2002","journal-title":"Nat Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1086\/522374","article-title":"Pathway-Based Approaches for Analysis of Genomewide Association Studies.","volume":"81","author":"K Wang","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1086\/504300","article-title":"Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes.","volume":"78","author":"L Franke","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1375\/twin.10.6.861","article-title":"Prioritization of positional candidate genes using multiple web-based software tools.","volume":"10","author":"TA Thornblad","year":"2007","journal-title":"Twin Res Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"R170","DOI":"10.1186\/gb-2008-9-12-r170","article-title":"FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.","volume":"9","author":"R Chen","year":"2008","journal-title":"Genome Biol"},{"key":"ref19","article-title":"Computational text analysis for functional genomics and bioinformatics","author":"S Raychaudhuri","year":"2006"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.cell.2008.06.029","article-title":"Seeking a new biology through text mining.","volume":"134","author":"A Rzhetsky","year":"2008","journal-title":"Cell"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/nrg1768","article-title":"Literature mining for the biologist: from information retrieval to biological discovery.","volume":"7","author":"LJ Jensen","year":"2006","journal-title":"Nat Rev Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1186\/gb-2005-6-7-224","article-title":"Text-mining and information-retrieval services for molecular biology.","volume":"6","author":"M Krallinger","year":"2005","journal-title":"Genome Biol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"D26","DOI":"10.1093\/nar\/gkl993","article-title":"Entrez Gene: gene-centered information at NCBI.","volume":"35","author":"D Maglott","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.175","article-title":"Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.","volume":"40","author":"JC Barrett","year":"2008","journal-title":"Nat Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"14863","DOI":"10.1073\/pnas.95.25.14863","article-title":"Cluster analysis and display of genome-wide expression patterns.","volume":"95","author":"MB Eisen","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1093\/bioinformatics\/btg153","article-title":"Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation.","volume":"19","author":"PW Lord","year":"2003","journal-title":"Bioinformatics"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.","volume":"25","author":"M Ashburner","year":"2000","journal-title":"Nat Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"6062","DOI":"10.1073\/pnas.0400782101","article-title":"A gene atlas of the mouse and human protein-encoding transcriptomes.","volume":"101","author":"AI Su","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nature07229","article-title":"Large recurrent microdeletions associated with schizophrenia.","volume":"455","author":"H Stefansson","year":"2008","journal-title":"Nature"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s10048-006-0032-6","article-title":"Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.","volume":"7","author":"RB Roth","year":"2006","journal-title":"Neurogenetics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1126\/science.1129577","article-title":"Human IRGM induces autophagy to eliminate intracellular mycobacteria.","volume":"313","author":"SB Singh","year":"2006","journal-title":"Science"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1126\/science.7510419","article-title":"Requirement for transcription factor IRF-1 in NO synthase induction in macrophages.","volume":"263","author":"R Kamijo","year":"1994","journal-title":"Science"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","article-title":"Genetic dissection of immunity to mycobacteria: the human model.","volume":"20","author":"JL Casanova","year":"2002","journal-title":"Annu Rev Immunol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.4049\/jimmunol.168.3.1322","article-title":"Mice lacking bioactive IL-12 can generate protective, antigen-specific cellular responses to mycobacterial infection only if the IL-12 p40 subunit is present.","volume":"168","author":"AM Cooper","year":"2002","journal-title":"J Immunol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1084\/jem.186.1.39","article-title":"Interleukin 12 (IL-12) is crucial to the development of protective immunity in mice intravenously infected with mycobacterium tuberculosis.","volume":"186","author":"AM Cooper","year":"1997","journal-title":"J Exp Med"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/nature03419","article-title":"Ipr1 gene mediates innate immunity to tuberculosis.","volume":"434","author":"H Pan","year":"2005","journal-title":"Nature"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320160409","article-title":"Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.","volume":"16","author":"RI Kelley","year":"1983","journal-title":"Am J Med Genet"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1126\/science.1546315","article-title":"A human gene responsible for Zellweger syndrome that affects peroxisome assembly.","volume":"255","author":"N Shimozawa","year":"1992","journal-title":"Science"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1297-449","article-title":"Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.","volume":"17","author":"H Portsteffen","year":"1997","journal-title":"Nat Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/hmg\/10.1.9","article-title":"The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein.","volume":"10","author":"G Blanco","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"2863","DOI":"10.1093\/hmg\/ddh308","article-title":"Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.","volume":"13","author":"J Beatham","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/sj.mp.4001558","article-title":"Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence.","volume":"10","author":"PJ Harrison","year":"2005","journal-title":"Mol Psychiatry"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1006\/bbrc.1998.8603","article-title":"Cloning and characterization of BAI-associated protein 1: a PDZ domain-containing protein that interacts with BAI1.","volume":"247","author":"T Shiratsuchi","year":"1998","journal-title":"Biochem Biophys Res Commun"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"21105","DOI":"10.1074\/jbc.273.33.21105","article-title":"A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins.","volume":"273","author":"K Hirao","year":"1998","journal-title":"J Biol Chem"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1006\/geno.2000.6310","article-title":"Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members.","volume":"69","author":"Y Kamei","year":"2000","journal-title":"Genomics"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/jnr.1133","article-title":"Neural recognition molecule NB-2 of the contactin\/F3 subgroup in rat: Specificity in neurite outgrowth-promoting activity and restricted expression in the brain regions.","volume":"65","author":"J Ogawa","year":"2001","journal-title":"J Neurosci Res"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0955-0674(03)00107-8","article-title":"Synaptic adhesion molecules.","volume":"15","author":"M Yamagata","year":"2003","journal-title":"Curr Opin Cell Biol"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1074\/jbc.M410181200","article-title":"The conserved immunoglobulin domain controls the subcellular localization of the homophilic adhesion receptor protein-tyrosine phosphatase mu.","volume":"280","author":"RL Del Vecchio","year":"2005","journal-title":"J Biol Chem"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nn1618","article-title":"Molecular taxonomy of major neuronal classes in the adult mouse forebrain.","volume":"9","author":"K Sugino","year":"2006","journal-title":"Nat Neurosci"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/nature04226","article-title":"A haplotype map of the human genome.","volume":"437","year":"2005","journal-title":"Nature"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1126\/science.1117196","article-title":"A fine-scale map of recombination rates and hotspots across the human genome.","volume":"310","author":"S Myers","year":"2005","journal-title":"Science"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1038\/ng2142","article-title":"Population genomics of human gene expression.","volume":"39","author":"BE Stranger","year":"2007","journal-title":"Nat Genet"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"D13","DOI":"10.1093\/nar\/gkm1000","article-title":"Database resources of the National Center for Biotechnology Information.","volume":"36","author":"DL Wheeler","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"ref54","article-title":"Foundations of Statistical Natural Language Processing","author":"CM Manning","year":"1999"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1093\/nar\/gng015","article-title":"Summaries of Affymetrix GeneChip probe level data.","volume":"31","author":"RA Irizarry","year":"2003","journal-title":"Nucleic Acids Res"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1000534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T02:51:31Z","timestamp":1558407091000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1000534"}},"subtitle":[],"editor":[{"given":"John D.","family":"Storey","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2009,6,26]]},"references-count":55,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2009,6,26]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1000534","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,26]]}}}