{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["van Dam TJP"],"funding":["Radboud Universiteit","Canadian Institutes of Health Research","CIHR","Netherlands Genomics Initiative","Telethon","Radboud Universitair Medisch Centrum","Deutsche Forschungsgemeinschaft","Metakids Foundation","NIHR Great Ormond Street Hospital Biomedical Research Center","Dutch Governement","Medical Research Council","Nierstichting","Dutch Research Council (NWO)","National Institute for Health Research (NIHR)","Michael Smith Foundation for Health Research","Seventh Framework Programme","KRESCENT","Biotechnology and Biological Sciences Research Council"],"pagination":["e0216705"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6522010"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(5)"],"pubmed_abstract":["The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been "],"journal":["PloS one"],"pubmed_title":["CiliaCarta: An integrated and validated compendium of ciliary genes."],"pmcid":["PMC6522010"],"funding_grant_id":["MOP-82870","050-060-452","CP11.18","Vici-865.12.005","PROPANE Study, 602273","241955","MOP-142243 and MOP-82870","865.12.005","collaborative research center grant SFB-1411 KIDGEM","TGM16CBDM04","senior scholar award","PJT-156042","Hypathia track","Excellence grant CellNetworks","MR/M000532/1","BB/P007791/1","MOP-142243","excellence fellowship","no. 278568, PRIMES","FES0908"],"pubmed_authors":["Lambacher NJ","Rix S","Kremer H","Omran H","van Beersum SEC","van Wijk E","Szklarczyk R","Ueffing M","Mans DA","Wissinger Y","Johnson CA","Hernandez-Hernandez V","Letteboer SJF","Oud MM","Giles RH","Schmidts M","Toedt G","Nguyen TT","Leroux MR","Knapp B","Russell RB","Dougherty GW","Huynen MA","Texier Y","Wolfrum U","Wheway G","Slaats GG","Gibson TJ","van Dam TJP","Li C","Jensen VL","Beales PL","van der Lee R","Roepman R","Kepes F","Kennedy J","Scheel JF","Wunderlich KA","Hjeij R","van Reeuwijk J","Koutroumpas K","de Vrieze E","Szymanska K","Blacque OE","Franco B","Boldt K","Lu Q","Horn N"],"additional_accession":[]},"is_claimable":false,"name":"CiliaCarta: An integrated and validated compendium of ciliary genes.","description":"The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2026-05-01T04:57:13.935Z","creation":"2019-07-01T13:52:45Z"},"accession":"S-EPMC6522010","cross_references":{"pubmed":["31095607"],"doi":["10.1371/journal.pone.0216705"]}}