<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> .
<> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/10102309> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/title> "Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/abstract> "Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. We connect this unannotated transcription to known genes, confirming that human gene annotation remains incomplete, even among well-studied genes including 63% of the Online Mendelian Inheritance in Man–morbid catalog and 317 neurodegeneration-associated genes. We find the greatest abundance of unannotated transcription in brain and genes highly expressed in brain are more likely to be reannotated. We explore examples of reannotated disease genes, such as SNCA, for which we experimentally validate a previously unidentified, brain-specific, potentially protein-coding exon. We release all tissue-specific transcriptomes through vizER: http://rytenlab.com/browser/app/vizER. We anticipate that this resource will facilitate more accurate genetic analysis, with the greatest impact on our understanding of Mendelian and complex neurogenetic disorders."^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/date> "2020-06-10" .
<https://discovery.ucl.ac.uk/id/document/1127765> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/volume> "6" .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/issue> "24" .
<https://discovery.ucl.ac.uk/id/publication/ext-639928a968e5ec8ffdf40f5d556d7318> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Collection> .
<https://discovery.ucl.ac.uk/id/publication/ext-639928a968e5ec8ffdf40f5d556d7318> <http://xmlns.com/foaf/0.1/name> "Science Advances"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/publication/ext-639928a968e5ec8ffdf40f5d556d7318> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/published> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_2> <https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-1d0da9db4b40cbe23022dda2bd210265> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_3> <https://discovery.ucl.ac.uk/id/person/ext-1d0da9db4b40cbe23022dda2bd210265> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_4> <https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_5> <https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_6> <https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_7> <https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_8> <https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-c4de7c702edacf3546ba14129deb5b37> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_9> <https://discovery.ucl.ac.uk/id/person/ext-c4de7c702edacf3546ba14129deb5b37> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_10> <https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_11> <https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_12> <https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_13> <https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> .
<https://discovery.ucl.ac.uk/id/eprint/10102309> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10102309#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10102309#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_14> <https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> .
<https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> <http://xmlns.com/foaf/0.1/givenName> "B"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> <http://xmlns.com/foaf/0.1/familyName> "Costa"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-75118c78993a125f55572dc254e6d8de> <http://xmlns.com/foaf/0.1/name> "B Costa"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> <http://xmlns.com/foaf/0.1/givenName> "JA"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> <http://xmlns.com/foaf/0.1/familyName> "Botía"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ffb2161bad13dbd0ba4d8346066bfcfd> <http://xmlns.com/foaf/0.1/name> "JA Botía"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> <http://xmlns.com/foaf/0.1/givenName> "W"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> <http://xmlns.com/foaf/0.1/familyName> "Liu"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ccfbc68216c0c8ee9af3a04ba8507a2> <http://xmlns.com/foaf/0.1/name> "W Liu"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> <http://xmlns.com/foaf/0.1/givenName> "L"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> <http://xmlns.com/foaf/0.1/familyName> "Collado-Torres"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8a74ccee21bd052ba3d5c9685ec731c5> <http://xmlns.com/foaf/0.1/name> "L Collado-Torres"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> <http://xmlns.com/foaf/0.1/givenName> "D"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> <http://xmlns.com/foaf/0.1/familyName> "Zhang"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8d3f91ae045c5b1f088ef8c71e60b929> <http://xmlns.com/foaf/0.1/name> "D Zhang"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> <http://xmlns.com/foaf/0.1/familyName> "Guelfi"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35cfc7f2935d9d3b68ea0df0640a0ac1> <http://xmlns.com/foaf/0.1/name> "S Guelfi"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> <http://xmlns.com/foaf/0.1/givenName> "K"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> <http://xmlns.com/foaf/0.1/familyName> "D’Sa"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8ec859c27fbfdce0140f225bd4ac037d> <http://xmlns.com/foaf/0.1/name> "K D’Sa"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> <http://xmlns.com/foaf/0.1/givenName> "T"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> <http://xmlns.com/foaf/0.1/familyName> "Courtin"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-85451e37b91c111eb605216aa1299c52> <http://xmlns.com/foaf/0.1/name> "T Courtin"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> <http://xmlns.com/foaf/0.1/givenName> "RH"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> <http://xmlns.com/foaf/0.1/familyName> "Reynolds"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-65203cd5f259173b36e4ece418c92c34> <http://xmlns.com/foaf/0.1/name> "RH Reynolds"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> <http://xmlns.com/foaf/0.1/familyName> "Hardy"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6c1fabf6018f3ebbe601a4b12d6460b9> <http://xmlns.com/foaf/0.1/name> "J Hardy"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> <http://xmlns.com/foaf/0.1/familyName> "Ryten"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2af5701b4d2631633217f6d7fe494ef5> <http://xmlns.com/foaf/0.1/name> "M Ryten"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> <http://xmlns.com/foaf/0.1/givenName> "AE"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> <http://xmlns.com/foaf/0.1/familyName> "Jaffe"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-01dbac478f6565e8c78bb1fda45d694b> <http://xmlns.com/foaf/0.1/name> "AE Jaffe"^^<http://www.w3.org/2001/XMLSchema#string> .
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