{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T12:24:06Z","timestamp":1773231846485,"version":"3.50.1"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"20","license":[{"start":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T00:00:00Z","timestamp":1497484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"funder":[{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/M009513\/1"],"award-info":[{"award-number":["BB\/M009513\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and querying of large volumes of structured genetic and phenotypic data. This abstracts technical problems away and lets researchers focus on the science rather than the implementation. We have also developed an accompanying webserver with end-points to facilitate querying of the database.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>The Java and Python code are available at https:\/\/github.com\/phenopolis\/pheno4j.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Supplementary information<\/jats:title>\n                    <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btx397","type":"journal-article","created":{"date-parts":[[2017,6,13]],"date-time":"2017-06-13T07:09:47Z","timestamp":1497337787000},"page":"3317-3319","source":"Crossref","is-referenced-by-count":13,"title":["Pheno4J: a gene to phenotype graph database"],"prefix":"10.1093","volume":"33","author":[{"given":"Sajid","family":"Mughal","sequence":"first","affiliation":[{"name":"Globe View, London, UK"}]},{"given":"Ismail","family":"Moghul","sequence":"additional","affiliation":[{"name":"UCL Cancer Institute, University College London, London, UK"}]},{"given":"Jing","family":"Yu","sequence":"additional","affiliation":[{"name":"Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK"}]},{"name":"UKIRDC","sequence":"additional","affiliation":[]},{"given":"Graeme","family":"Black","sequence":"additional","affiliation":[]},{"given":"Georgina","family":"Hall","sequence":"additional","affiliation":[]},{"given":"Stuart","family":"Ingram","sequence":"additional","affiliation":[]},{"given":"Rachel","family":"Gillespie","sequence":"additional","affiliation":[]},{"given":"Forbes","family":"Manson","sequence":"additional","affiliation":[]},{"given":"Panagiotis","family":"Sergouniotis","sequence":"additional","affiliation":[]},{"given":"Chris","family":"Inglehearn","sequence":"additional","affiliation":[]},{"given":"Carmel","family":"Toomes","sequence":"additional","affiliation":[]},{"given":"Manir","family":"Ali","sequence":"additional","affiliation":[]},{"given":"Martin","family":"McKibbin","sequence":"additional","affiliation":[]},{"given":"James","family":"Poulter","sequence":"additional","affiliation":[]},{"given":"Kamron","family":"Khan","sequence":"additional","affiliation":[]},{"given":"Emma","family":"Lord","sequence":"additional","affiliation":[]},{"given":"Andrea","family":"Nemeth","sequence":"additional","affiliation":[]},{"given":"Susan","family":"Downes","sequence":"additional","affiliation":[]},{"given":"Stephanie","family":"Halford","sequence":"additional","affiliation":[]},{"given":"Jing","family":"Yu","sequence":"additional","affiliation":[]},{"given":"Stefano","family":"Lise","sequence":"additional","affiliation":[]},{"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[]},{"given":"Alessia","family":"Fiorentino","sequence":"additional","affiliation":[]},{"given":"Nikolas","family":"Pontikos","sequence":"additional","affiliation":[]},{"given":"Vincent","family":"Plagnol","sequence":"additional","affiliation":[]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[]},{"given":"Alison J","family":"Hardcastle","sequence":"additional","affiliation":[]},{"given":"Michael E","family":"Cheetham","sequence":"additional","affiliation":[]},{"given":"Andrew R","family":"Webster","sequence":"additional","affiliation":[]},{"given":"Veronica","family":"van Heyningen","sequence":"additional","affiliation":[]},{"given":"Tristan","family":"Clark","sequence":"additional","affiliation":[{"name":"Computer Science Department, University College London, London, UK"}]},{"given":"David S","family":"Gregory","sequence":"additional","affiliation":[{"name":"Computer Science Department, University College London, London, UK"}]},{"given":"Nikolas","family":"Pontikos","sequence":"additional","affiliation":[{"name":"UCL Genetics Institute, University College London, London, UK"},{"name":"Institute of Ophthalmology, University College London, London, UK"},{"name":"Moorfields Eye Hospital, London, UK"}]}],"member":"286","published-online":{"date-parts":[[2017,6,15]]},"reference":[{"key":"2023020208002396900_btx397-B1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. 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