The Human Phenotype Ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenoty...
Saved in:
| Published in | Nucleic acids research Vol. 45; no. D1; pp. D865 - D876 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
04.01.2017
|
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology. |
|---|---|
| AbstractList | Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology. Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org ) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology. |
| Author | Baynam, Gareth Helbig, Ingo McMurry, Julie Züchner, Stephan F Laulederkind, Stanley J Foster, Erin von Ziegenweidt, Julie Zankl, Andreas Krause, Roland Pontikos, Nikolas Boerkoel, Cornelius F Veltman, Marijcke W M Rath, Ana Turro, Ernest Groza, Tudor Brudno, Michael Lyon, Gholson J Aymé, Ségolène Sergouniotis, Panagiotis I Köhler, Sebastian Thompson, Rachel Hamosh, Ada Ogishima, Soichi Vulliamy, Tom Haendel, Melissa Lochmüller, Hanns Vasilevsky, Nicole A Chinnery, Patrick F Engelstad, Mark Jacobsen, Julius O B Segal, Michael Schaefer, Franz Smedley, Damian Ouwehand, Willem H Buske, Orion J Cipriani, Valentina Firth, Helen V Olry, Annie Smith, Cynthia L Boycott, Kym M Dawkins, Hugh J S Scott, Richard H Hum, Courtney DeMare, Laura E Turner, Catherine Greene, Daniel Devereau, Andrew D Zemojtel, Tomasz de Vries, Bert B A Robinson, Peter N Jähn, Johanna A James, Roger Straub, Volker Bello, Susan M Sever, Richard Yu, Jing Connell, Laureen E Freson, Kathleen Mungall, Christopher J |
| Author_xml | – sequence: 1 givenname: Sebastian surname: Köhler fullname: Köhler, Sebastian email: dr.sebastian.koehler@gmail.com organization: Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com – sequence: 2 givenname: Nicole A orcidid: 0000-0001-5208-3432 surname: Vasilevsky fullname: Vasilevsky, Nicole A organization: Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 3 givenname: Mark surname: Engelstad fullname: Engelstad, Mark organization: Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 4 givenname: Erin surname: Foster fullname: Foster, Erin organization: Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 5 givenname: Julie surname: McMurry fullname: McMurry, Julie organization: Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 6 givenname: Ségolène surname: Aymé fullname: Aymé, Ségolène organization: Institut du Cerveau et de la Moelle épinière-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, Hôpital Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris, France – sequence: 7 givenname: Gareth surname: Baynam fullname: Baynam, Gareth organization: School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia – sequence: 8 givenname: Susan M surname: Bello fullname: Bello, Susan M organization: The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA – sequence: 9 givenname: Cornelius F surname: Boerkoel fullname: Boerkoel, Cornelius F organization: Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA – sequence: 10 givenname: Kym M surname: Boycott fullname: Boycott, Kym M organization: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada – sequence: 11 givenname: Michael surname: Brudno fullname: Brudno, Michael organization: Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada – sequence: 12 givenname: Orion J surname: Buske fullname: Buske, Orion J organization: Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada – sequence: 13 givenname: Patrick F surname: Chinnery fullname: Chinnery, Patrick F organization: NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK – sequence: 14 givenname: Valentina surname: Cipriani fullname: Cipriani, Valentina organization: UCL Genetics Institute, University College London, London WC1E 6BT, UK – sequence: 15 givenname: Laureen E surname: Connell fullname: Connell, Laureen E organization: Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA – sequence: 16 givenname: Hugh J S surname: Dawkins fullname: Dawkins, Hugh J S organization: Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia – sequence: 17 givenname: Laura E surname: DeMare fullname: DeMare, Laura E organization: Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA – sequence: 18 givenname: Andrew D surname: Devereau fullname: Devereau, Andrew D organization: Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK – sequence: 19 givenname: Bert B A surname: de Vries fullname: de Vries, Bert B A organization: Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands – sequence: 20 givenname: Helen V surname: Firth fullname: Firth, Helen V organization: Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK – sequence: 21 givenname: Kathleen surname: Freson fullname: Freson, Kathleen organization: Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium – sequence: 22 givenname: Daniel surname: Greene fullname: Greene, Daniel organization: Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK – sequence: 23 givenname: Ada surname: Hamosh fullname: Hamosh, Ada organization: McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA – sequence: 24 givenname: Ingo surname: Helbig fullname: Helbig, Ingo organization: Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany – sequence: 25 givenname: Courtney surname: Hum fullname: Hum, Courtney organization: Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada – sequence: 26 givenname: Johanna A surname: Jähn fullname: Jähn, Johanna A organization: Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany – sequence: 27 givenname: Roger surname: James fullname: James, Roger organization: Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK – sequence: 28 givenname: Roland surname: Krause fullname: Krause, Roland organization: LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg – sequence: 29 givenname: Stanley J orcidid: 0000-0001-5356-4174 surname: F Laulederkind fullname: F Laulederkind, Stanley J organization: Human and Molecular Genetics Center, Medical College of Wisconsin, USA – sequence: 30 givenname: Hanns surname: Lochmüller fullname: Lochmüller, Hanns organization: John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK – sequence: 31 givenname: Gholson J surname: Lyon fullname: Lyon, Gholson J organization: Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA – sequence: 32 givenname: Soichi surname: Ogishima fullname: Ogishima, Soichi organization: Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan – sequence: 33 givenname: Annie surname: Olry fullname: Olry, Annie organization: Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France – sequence: 34 givenname: Willem H surname: Ouwehand fullname: Ouwehand, Willem H organization: Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK – sequence: 35 givenname: Nikolas surname: Pontikos fullname: Pontikos, Nikolas organization: UCL Genetics Institute, University College London, London WC1E 6BT, UK – sequence: 36 givenname: Ana surname: Rath fullname: Rath, Ana organization: Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France – sequence: 37 givenname: Franz surname: Schaefer fullname: Schaefer, Franz organization: Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany – sequence: 38 givenname: Richard H surname: Scott fullname: Scott, Richard H organization: Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK – sequence: 39 givenname: Michael surname: Segal fullname: Segal, Michael organization: SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA – sequence: 40 givenname: Panagiotis I surname: Sergouniotis fullname: Sergouniotis, Panagiotis I organization: Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK – sequence: 41 givenname: Richard surname: Sever fullname: Sever, Richard organization: Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA – sequence: 42 givenname: Cynthia L surname: Smith fullname: Smith, Cynthia L organization: The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA – sequence: 43 givenname: Volker surname: Straub fullname: Straub, Volker organization: John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK – sequence: 44 givenname: Rachel surname: Thompson fullname: Thompson, Rachel organization: John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK – sequence: 45 givenname: Catherine surname: Turner fullname: Turner, Catherine organization: John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK – sequence: 46 givenname: Ernest surname: Turro fullname: Turro, Ernest organization: Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK – sequence: 47 givenname: Marijcke W M surname: Veltman fullname: Veltman, Marijcke W M organization: NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK – sequence: 48 givenname: Tom surname: Vulliamy fullname: Vulliamy, Tom organization: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK – sequence: 49 givenname: Jing surname: Yu fullname: Yu, Jing organization: Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK – sequence: 50 givenname: Julie surname: von Ziegenweidt fullname: von Ziegenweidt, Julie organization: Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK – sequence: 51 givenname: Andreas surname: Zankl fullname: Zankl, Andreas organization: Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia – sequence: 52 givenname: Stephan surname: Züchner fullname: Züchner, Stephan organization: JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA – sequence: 53 givenname: Tomasz surname: Zemojtel fullname: Zemojtel, Tomasz organization: Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany – sequence: 54 givenname: Julius O B surname: Jacobsen fullname: Jacobsen, Julius O B organization: Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK – sequence: 55 givenname: Tudor surname: Groza fullname: Groza, Tudor organization: St Vincent's Clinical School, Faculty of Medicine, UNSW Australia – sequence: 56 givenname: Damian surname: Smedley fullname: Smedley, Damian organization: Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK – sequence: 57 givenname: Christopher J surname: Mungall fullname: Mungall, Christopher J organization: Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA – sequence: 58 givenname: Melissa surname: Haendel fullname: Haendel, Melissa organization: Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 59 givenname: Peter N surname: Robinson fullname: Robinson, Peter N email: peter.robinson@jax.org organization: Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27899602$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-04412294$$DView record in HAL |
| BookMark | eNpdkM1Lw0AQxRep2A89eZccvIjEzuxHunsRSlErFOqhnpftZtNE201J0kr_e7e0FhUGBmbe-_F4XdLypXeEXCM8ICjW96bqLz6_EJg6Ix1kCY25SmiLdICBiBG4bJNuXX8AIEfBL0ibDqRSCdAOuZ3lLhpvVsZHb7nzZbNbu2jqm3JZLnZR4SMKOLgk55lZ1u7quHvk_flpNhrHk-nL62g4iW3gNrG0fKAYKIpccbQmDLeZdCrlhtI0EwA0YZIqpqTIUiuYUVZiCCPROD5nPfJ44K4385VLrfNNZZZ6XRUrU-10aQr99-OLXC_KrRYUQTARAHcHQP7PNh5O9P4GnCOlim8xaO8PWluVdV257GRA0PtidShWH4sN6pvf0U7anybZN-NcdCI |
| CitedBy_id | crossref_primary_10_1093_brain_awy209 crossref_primary_10_1093_bioinformatics_bty605 crossref_primary_10_1159_000511343 crossref_primary_10_1093_nar_gkac821 crossref_primary_10_1007_s11560_018_0309_4 crossref_primary_10_1186_s12859_021_04421_z crossref_primary_10_1093_bib_bbac220 crossref_primary_10_1186_s12920_017_0246_5 crossref_primary_10_1038_s41431_017_0085_z crossref_primary_10_1038_ng_3827 crossref_primary_10_1038_s41467_019_09407_3 crossref_primary_10_1016_j_bbadis_2020_165714 crossref_primary_10_1371_journal_pcbi_1005873 crossref_primary_10_1093_nar_gkz330 crossref_primary_10_1002_humu_23633 crossref_primary_10_1002_humu_23632 crossref_primary_10_1186_s12859_017_1854_y crossref_primary_10_1109_JBHI_2018_2870728 crossref_primary_10_1097_AUD_0000000000000614 crossref_primary_10_3389_fgene_2019_00152 crossref_primary_10_3389_fmed_2021_747612 crossref_primary_10_1101_mcs_a001966 crossref_primary_10_1016_j_artmed_2023_102523 crossref_primary_10_1093_bioinformatics_btz920 crossref_primary_10_1093_hmg_ddy239 crossref_primary_10_1111_imr_12726 crossref_primary_10_1007_s10479_023_05545_6 crossref_primary_10_1038_s41467_019_10649_4 crossref_primary_10_1007_s00439_022_02449_6 crossref_primary_10_3233_JND_180345 crossref_primary_10_1038_s10038_018_0545_5 crossref_primary_10_1038_s41593_017_0017_9 crossref_primary_10_1021_acs_jproteome_8b00393 crossref_primary_10_1016_j_compbiomed_2019_04_004 crossref_primary_10_1186_s12920_019_0492_9 crossref_primary_10_1093_bioinformatics_btab740 crossref_primary_10_1016_j_jbi_2020_103482 crossref_primary_10_1002_jgc4_1119 crossref_primary_10_1038_s41431_018_0328_7 crossref_primary_10_1109_TCBB_2017_2769642 crossref_primary_10_1007_s00108_018_0456_8 crossref_primary_10_1016_j_jaci_2021_04_033 crossref_primary_10_1016_j_ejmg_2021_104334 crossref_primary_10_1002_humu_23655 crossref_primary_10_1093_jamia_ocy161 crossref_primary_10_1155_2019_5303869 crossref_primary_10_1007_s00431_023_04909_1 crossref_primary_10_1007_s10592_018_1072_9 crossref_primary_10_1093_database_baac073 crossref_primary_10_1038_s41598_018_32876_3 crossref_primary_10_1089_hum_2017_215 crossref_primary_10_3389_fgene_2019_00258 crossref_primary_10_4103_wjtcm_wjtcm_31_20 crossref_primary_10_3390_cells10082084 crossref_primary_10_1242_dmm_032839 crossref_primary_10_1126_scitranslmed_aay6848 crossref_primary_10_1186_s12711_021_00645_y crossref_primary_10_1016_j_gene_2019_02_020 crossref_primary_10_1002_mgg3_595 crossref_primary_10_1186_s12911_020_1105_4 crossref_primary_10_1016_j_jhsa_2017_08_029 crossref_primary_10_1007_s13353_021_00649_w crossref_primary_10_1186_s13023_018_0980_6 crossref_primary_10_1016_j_ejmg_2020_104028 crossref_primary_10_7554_eLife_52614 crossref_primary_10_1016_j_diabres_2020_108461 crossref_primary_10_1016_j_jbi_2021_103861 crossref_primary_10_1161_CIRCRESAHA_117_310782 crossref_primary_10_3390_ijerph15081746 crossref_primary_10_1038_s41746_019_0110_4 crossref_primary_10_1038_s41598_020_74705_6 crossref_primary_10_1093_bioinformatics_btab520 crossref_primary_10_2196_12596 crossref_primary_10_1186_s13023_020_01428_2 crossref_primary_10_1007_s10545_018_0240_x crossref_primary_10_1038_ng_3901 crossref_primary_10_3389_fmed_2017_00062 crossref_primary_10_1002_humu_23555 crossref_primary_10_1007_s10072_020_04304_w crossref_primary_10_1038_s41598_021_93809_1 crossref_primary_10_1002_humu_23679 crossref_primary_10_1038_s41588_018_0096_x crossref_primary_10_1038_s41559_019_0914_2 crossref_primary_10_1038_s41431_017_0008_z crossref_primary_10_3233_TRD_190045 crossref_primary_10_1093_bioinformatics_btx426 crossref_primary_10_1016_j_neuropharm_2020_107970 crossref_primary_10_1146_annurev_biodatasci_080917_013356 crossref_primary_10_1038_s41598_023_42202_1 crossref_primary_10_1371_journal_pone_0271737 crossref_primary_10_1016_j_neulet_2018_08_027 crossref_primary_10_1002_ajmg_a_62185 crossref_primary_10_1016_j_ijpp_2021_03_003 crossref_primary_10_1093_bib_bbac405 crossref_primary_10_1136_jmedgenet_2018_105703 crossref_primary_10_1016_j_ajhg_2020_08_003 crossref_primary_10_1093_jamia_ocy153 crossref_primary_10_1093_bib_bbz176 crossref_primary_10_1002_uog_23722 crossref_primary_10_3389_fphar_2024_1303693 crossref_primary_10_1002_ajmg_c_31568 crossref_primary_10_3390_genes11040460 crossref_primary_10_1186_s12911_017_0568_4 crossref_primary_10_1212_WNL_0000000000013278 crossref_primary_10_2174_1389202923666220426093436 crossref_primary_10_3389_fgene_2020_565078 crossref_primary_10_3390_genes15010136 crossref_primary_10_1093_bib_bby071 crossref_primary_10_1371_journal_pone_0215618 crossref_primary_10_1109_TCBB_2020_3002771 crossref_primary_10_1186_s12859_018_2064_y crossref_primary_10_1016_j_yebeh_2019_06_017 crossref_primary_10_3389_fgene_2024_1382371 crossref_primary_10_1002_humu_23560 crossref_primary_10_1093_bioinformatics_bty897 crossref_primary_10_1016_j_jid_2018_02_016 crossref_primary_10_1002_prca_201700073 crossref_primary_10_1146_annurev_biodatasci_080917_013335 crossref_primary_10_15252_msb_20156297 crossref_primary_10_1109_TCSVT_2021_3087641 crossref_primary_10_1146_annurev_biodatasci_080917_013459 crossref_primary_10_1016_j_compbiomed_2021_104243 crossref_primary_10_1038_s41467_018_03667_1 crossref_primary_10_1177_14604582241259322 crossref_primary_10_1038_s41467_024_50024_6 crossref_primary_10_1038_s41598_020_57916_9 crossref_primary_10_1111_jth_13681 crossref_primary_10_3389_fneur_2023_1206106 crossref_primary_10_1186_s12859_017_1979_z crossref_primary_10_1080_09286586_2020_1862244 crossref_primary_10_1111_jocn_16664 crossref_primary_10_1371_journal_pgen_1009060 crossref_primary_10_1093_bioinformatics_btx238 crossref_primary_10_1021_acs_jproteome_3c00289 crossref_primary_10_1093_nar_gkx1153 crossref_primary_10_1126_scitranslmed_aat6177 crossref_primary_10_1111_jnc_15135 crossref_primary_10_3389_fimmu_2018_01340 crossref_primary_10_1016_j_isci_2022_104920 crossref_primary_10_1093_nar_gkx1039 crossref_primary_10_1093_jmcb_mjy063 crossref_primary_10_1038_s41576_019_0200_9 crossref_primary_10_1093_nar_gkac318 crossref_primary_10_1016_j_braindev_2018_08_005 crossref_primary_10_1136_annrheumdis_2020_217125 crossref_primary_10_1038_s41467_019_13433_6 crossref_primary_10_1093_bioinformatics_bty559 crossref_primary_10_1097_MCD_0000000000000275 crossref_primary_10_1038_s41588_023_01469_w crossref_primary_10_7717_peerj_8580 crossref_primary_10_1038_s41684_018_0150_4 crossref_primary_10_3389_fendo_2020_00368 crossref_primary_10_1371_journal_pgen_1009173 crossref_primary_10_1007_s00467_018_3958_7 crossref_primary_10_3389_fgene_2021_773009 crossref_primary_10_1111_cts_12500 crossref_primary_10_1007_s40291_017_0257_0 crossref_primary_10_1186_s12920_023_01682_w crossref_primary_10_1515_jib_2018_0069 crossref_primary_10_1210_jc_2017_01966 crossref_primary_10_3390_ijerph15102072 crossref_primary_10_7326_M18_1241 crossref_primary_10_1016_j_celrep_2020_108307 crossref_primary_10_1002_humu_23936 crossref_primary_10_3897_BDJ_6_e26659 crossref_primary_10_1002_med_21847 crossref_primary_10_1080_15476286_2020_1737441 crossref_primary_10_1016_j_ejmg_2017_12_004 crossref_primary_10_1186_s12859_023_05574_9 crossref_primary_10_1155_2020_5904315 crossref_primary_10_1093_bib_bbz119 crossref_primary_10_1146_annurev_biodatasci_122320_112352 crossref_primary_10_1016_j_jmb_2018_05_006 crossref_primary_10_1002_cphg_92 crossref_primary_10_3390_genes10100797 crossref_primary_10_7717_peerj_5298 crossref_primary_10_1016_j_ajhg_2020_03_012 crossref_primary_10_1200_CCI_21_00075 crossref_primary_10_1101_mcs_a005231 crossref_primary_10_1002_pd_5532 crossref_primary_10_1093_nar_gkx1006 crossref_primary_10_1016_j_cels_2018_01_008 crossref_primary_10_1016_j_knosys_2023_110752 crossref_primary_10_1038_s41467_019_13058_9 crossref_primary_10_1186_s13326_021_00241_5 crossref_primary_10_3389_frai_2022_932665 crossref_primary_10_1016_j_jbi_2023_104558 crossref_primary_10_1038_s41525_021_00192_x crossref_primary_10_3389_fpsyt_2018_00535 crossref_primary_10_1016_j_ajhg_2018_08_003 crossref_primary_10_1016_j_ebiom_2022_104413 crossref_primary_10_1038_s41588_020_00751_5 crossref_primary_10_1016_j_jbi_2022_104272 crossref_primary_10_1093_database_baaa104 crossref_primary_10_3389_fgene_2019_00127 crossref_primary_10_3389_fimmu_2019_00795 crossref_primary_10_1016_j_bbapap_2020_140503 crossref_primary_10_1186_s13023_018_0918_z crossref_primary_10_1016_j_phrs_2020_104739 crossref_primary_10_1056_NEJMra1615014 crossref_primary_10_1038_s41585_023_00816_0 crossref_primary_10_4103_am_am_65_23 crossref_primary_10_3390_jpm11080730 crossref_primary_10_1016_j_ygeno_2020_05_015 crossref_primary_10_1093_nar_gkx1062 crossref_primary_10_1186_s12864_019_5868_x crossref_primary_10_1371_journal_pcbi_1008376 crossref_primary_10_33160_yam_2019_09_001 crossref_primary_10_1016_j_jbiotec_2017_06_008 crossref_primary_10_1093_bib_bbx035 crossref_primary_10_1007_s00134_019_05552_x crossref_primary_10_1080_17453674_2017_1383097 crossref_primary_10_1089_neu_2021_0059 crossref_primary_10_1016_j_jbi_2022_104059 crossref_primary_10_1038_s41525_018_0060_9 crossref_primary_10_1186_s12920_020_00793_y crossref_primary_10_1101_mcs_a006135 crossref_primary_10_1109_JBHI_2018_2830806 crossref_primary_10_1038_s41591_019_0457_8 crossref_primary_10_1016_j_ijpp_2021_05_006 crossref_primary_10_1155_2020_3041498 crossref_primary_10_1242_dmm_050604 crossref_primary_10_1038_s41467_020_18682_4 crossref_primary_10_1093_jamia_ocab050 crossref_primary_10_1002_humu_23607 crossref_primary_10_1177_00220345211001850 crossref_primary_10_1515_jib_2018_0049 crossref_primary_10_1016_j_yebeh_2017_06_041 crossref_primary_10_1093_nar_gkx1049 crossref_primary_10_1093_nar_gkad1005 crossref_primary_10_1038_s41598_020_66836_7 crossref_primary_10_7861_clinmedicine_19_1_30 crossref_primary_10_1080_17460441_2017_1329296 crossref_primary_10_1002_ajmg_a_38318 crossref_primary_10_1016_j_xhgg_2021_100035 crossref_primary_10_1093_bioinformatics_bty040 crossref_primary_10_1093_nar_gky1126 crossref_primary_10_1016_j_ajhg_2018_07_006 crossref_primary_10_2174_0929867325666180530100332 crossref_primary_10_1515_labmed_2018_0054 crossref_primary_10_1007_s12098_022_04345_3 crossref_primary_10_1007_s00228_020_02898_w crossref_primary_10_1186_s13023_022_02326_5 crossref_primary_10_1093_bib_bbae077 crossref_primary_10_1007_s10545_017_0125_4 crossref_primary_10_1093_nar_gky1133 crossref_primary_10_1186_s12920_018_0386_2 crossref_primary_10_1038_s41467_020_14314_z crossref_primary_10_2196_14286 crossref_primary_10_3389_fphys_2019_00154 crossref_primary_10_3390_biom12050644 crossref_primary_10_1212_WNL_0000000000012436 crossref_primary_10_1002_cti2_1266 crossref_primary_10_1089_gtmb_2019_0064 crossref_primary_10_1186_s12920_021_00900_7 crossref_primary_10_1093_jamiaopen_ooz009 crossref_primary_10_7717_peerj_14927 crossref_primary_10_1016_j_ejmg_2020_103995 crossref_primary_10_1038_s41576_018_0005_2 crossref_primary_10_1186_s12859_020_03773_2 crossref_primary_10_1016_j_preteyeres_2017_03_003 crossref_primary_10_1093_nar_gky1021 crossref_primary_10_3389_fphys_2017_01038 crossref_primary_10_1002_ajmg_a_62565 crossref_primary_10_1016_j_csbj_2021_03_011 crossref_primary_10_1038_s41598_024_58894_y crossref_primary_10_1093_toxsci_kfy265 crossref_primary_10_1016_j_envres_2021_111185 crossref_primary_10_1056_NEJMoa1806627 crossref_primary_10_1212_NXG_0000000000000444 crossref_primary_10_1186_s13326_017_0162_9 crossref_primary_10_1093_database_bay106 crossref_primary_10_1016_j_coisb_2017_07_012 crossref_primary_10_1186_s13023_019_1187_1 crossref_primary_10_1155_2020_5690915 crossref_primary_10_1002_jimd_12130 crossref_primary_10_1186_s12859_018_2027_3 crossref_primary_10_1038_s41597_023_01960_3 crossref_primary_10_1093_nar_gky1151 crossref_primary_10_1093_nar_gky1032 crossref_primary_10_1016_j_tig_2018_12_006 crossref_primary_10_1093_database_bay110 crossref_primary_10_1111_nyas_13520 crossref_primary_10_1093_bioinformatics_bty182 crossref_primary_10_1093_bioinformatics_btz270 crossref_primary_10_1101_mcs_a002360 crossref_primary_10_1038_s41588_019_0456_1 crossref_primary_10_1186_s13073_021_00945_4 crossref_primary_10_1155_2019_1769437 crossref_primary_10_1016_j_jep_2021_114609 crossref_primary_10_1186_s13073_019_0692_0 crossref_primary_10_1002_ccr3_3146 crossref_primary_10_1111_chd_12630 crossref_primary_10_1038_s41598_018_26274_y crossref_primary_10_1016_j_ecoinf_2017_06_003 crossref_primary_10_1098_rsif_2018_0248 crossref_primary_10_1038_s41598_018_28815_x crossref_primary_10_1186_s12859_018_2584_5 crossref_primary_10_1371_journal_pone_0174964 crossref_primary_10_1016_j_mcp_2019_03_006 crossref_primary_10_1038_s10038_019_0573_9 crossref_primary_10_1093_jamia_ocaa269 crossref_primary_10_1007_s00404_022_06584_3 crossref_primary_10_1186_s13023_020_1313_0 crossref_primary_10_1002_ajmg_a_60679 crossref_primary_10_12688_f1000research_24887_1 crossref_primary_10_1016_j_imu_2024_101505 crossref_primary_10_3389_fimmu_2021_803763 crossref_primary_10_1186_s40246_017_0107_5 crossref_primary_10_1016_j_imu_2023_101211 crossref_primary_10_1101_mcs_a003392 crossref_primary_10_1111_cen_13841 crossref_primary_10_1038_nrg_2017_52 crossref_primary_10_3389_fmed_2022_770031 crossref_primary_10_1002_cpbi_85 crossref_primary_10_1038_s41597_023_01993_8 crossref_primary_10_1089_aivt_2017_0012 crossref_primary_10_1186_s40246_020_00282_4 crossref_primary_10_1002_cphg_49 crossref_primary_10_1038_eye_2017_268 crossref_primary_10_1182_blood_2018891192 crossref_primary_10_1038_s42003_022_03644_x crossref_primary_10_1093_nar_gky1105 crossref_primary_10_1186_s12906_020_02954_z crossref_primary_10_1016_j_procs_2021_09_201 crossref_primary_10_1093_database_bay026 crossref_primary_10_1111_cge_14257 crossref_primary_10_1016_j_kint_2019_11_037 crossref_primary_10_1093_database_baz118 crossref_primary_10_1101_mcs_a002055 crossref_primary_10_3390_data9040055 crossref_primary_10_3390_jpm10040247 crossref_primary_10_1016_j_gim_2021_09_016 crossref_primary_10_1016_j_jaci_2019_09_009 crossref_primary_10_1111_cge_13163 crossref_primary_10_1016_j_celrep_2018_02_008 crossref_primary_10_1186_s13326_020_00230_0 crossref_primary_10_1093_nar_gkz923 crossref_primary_10_3389_fgene_2019_00611 crossref_primary_10_1097_MD_0000000000016782 crossref_primary_10_1007_s12041_019_1090_5 crossref_primary_10_1016_j_ajhg_2017_04_003 crossref_primary_10_1002_ana_26381 crossref_primary_10_1007_s11845_021_02736_7 crossref_primary_10_1016_j_isci_2020_101123 crossref_primary_10_1038_s41597_021_01112_5 crossref_primary_10_1016_j_ajhg_2023_11_011 crossref_primary_10_1089_nsm_2020_0003 crossref_primary_10_1186_s13023_021_01727_2 crossref_primary_10_1002_wsbm_1443 crossref_primary_10_1182_blood_2019_01_852350 crossref_primary_10_1002_jgc4_1094 crossref_primary_10_1109_JBHI_2020_3004143 crossref_primary_10_3389_fcvm_2017_00072 crossref_primary_10_1038_s41431_023_01523_5 crossref_primary_10_1186_s12911_022_01927_1 crossref_primary_10_1155_2017_8565739 crossref_primary_10_12688_f1000research_10788_1 crossref_primary_10_1016_S0140_6736_19_31274_7 crossref_primary_10_1093_ilar_ilx013 crossref_primary_10_1101_mcs_a003525 crossref_primary_10_1186_s12859_019_3157_y crossref_primary_10_1186_s40246_022_00381_4 crossref_primary_10_1002_ajmg_c_31718 crossref_primary_10_1002_mgg3_1263 crossref_primary_10_1093_nar_gkaa1043 crossref_primary_10_1186_s12920_022_01166_3 crossref_primary_10_1093_jamia_ocy117 crossref_primary_10_1093_nar_gkx445 crossref_primary_10_1186_s12920_022_01287_9 crossref_primary_10_1371_journal_pcbi_1006790 crossref_primary_10_1186_s12887_024_04761_8 crossref_primary_10_1101_mcs_a003756 crossref_primary_10_1016_j_jmoldx_2024_01_009 crossref_primary_10_1038_s41433_018_0154_8 crossref_primary_10_2478_enr_2019_0013 crossref_primary_10_1002_humu_23374 crossref_primary_10_1097_JBR_0000000000000051 crossref_primary_10_3390_genes10120960 crossref_primary_10_1016_j_cell_2018_08_019 crossref_primary_10_1016_j_sbi_2021_09_003 crossref_primary_10_1038_s41467_021_22570_w crossref_primary_10_1016_j_scr_2020_101887 crossref_primary_10_1016_j_csbj_2022_11_042 crossref_primary_10_1016_j_ajhg_2018_05_010 crossref_primary_10_1016_j_drudis_2017_10_009 crossref_primary_10_1016_j_jmoldx_2021_11_004 crossref_primary_10_1186_s13023_019_1020_x crossref_primary_10_1097_PCC_0000000000002082 crossref_primary_10_1186_s13023_018_0936_x crossref_primary_10_1186_s13073_023_01214_2 crossref_primary_10_3897_BDJ_6_e29232 crossref_primary_10_1186_s13073_017_0482_5 crossref_primary_10_1016_j_ajhg_2019_04_001 crossref_primary_10_1371_journal_pcbi_1010944 crossref_primary_10_1186_s13765_021_00617_2 crossref_primary_10_1038_s41597_021_00984_x crossref_primary_10_1007_s11036_019_01237_3 crossref_primary_10_1002_ajmg_b_32627 crossref_primary_10_1002_humu_23278 crossref_primary_10_1002_jimd_12315 crossref_primary_10_1002_ajmg_c_31989 crossref_primary_10_1371_journal_pone_0231728 crossref_primary_10_1002_mgg3_2167 crossref_primary_10_1038_nature25983 crossref_primary_10_1007_s10528_023_10651_y crossref_primary_10_1038_s41598_018_31439_w crossref_primary_10_1002_ajmg_a_40431 crossref_primary_10_1007_s10545_018_0172_5 crossref_primary_10_1016_j_nmd_2018_05_007 crossref_primary_10_1016_j_ymeth_2020_06_015 crossref_primary_10_3389_fgene_2023_1301439 crossref_primary_10_3390_cancers12051286 crossref_primary_10_1038_s41582_018_0099_3 crossref_primary_10_1038_s41439_019_0084_4 crossref_primary_10_1016_j_ejmg_2018_01_013 crossref_primary_10_1093_bib_bbac019 crossref_primary_10_1186_s13023_020_1317_9 crossref_primary_10_1007_s00106_022_01254_x crossref_primary_10_1186_s12920_018_0372_8 crossref_primary_10_1371_journal_pone_0180682 crossref_primary_10_1038_s41431_020_0658_0 crossref_primary_10_1002_jimd_12663 crossref_primary_10_1186_s13023_018_0955_7 crossref_primary_10_1016_j_ajhg_2020_06_021 crossref_primary_10_1371_journal_pone_0252953 crossref_primary_10_1016_j_jacbts_2018_01_003 crossref_primary_10_1038_s41431_018_0115_5 crossref_primary_10_1111_ijlh_12812 crossref_primary_10_3389_fphys_2018_00007 crossref_primary_10_1177_0883073817711527 crossref_primary_10_1016_j_cotox_2019_05_005 crossref_primary_10_1111_ors_12724 crossref_primary_10_1002_minf_202100200 crossref_primary_10_1101_mcs_a002469 crossref_primary_10_3389_fmed_2022_1071348 crossref_primary_10_1111_1749_4877_12851 crossref_primary_10_1016_j_gpb_2018_10_006 crossref_primary_10_1111_cge_13471 crossref_primary_10_1101_mcs_a002345 crossref_primary_10_1002_humu_24266 crossref_primary_10_1002_ajmg_b_32727 crossref_primary_10_1002_humu_24389 crossref_primary_10_3390_app10207077 crossref_primary_10_1016_j_kint_2020_08_039 crossref_primary_10_1089_omi_2018_0027 crossref_primary_10_1016_j_genrep_2020_100830 crossref_primary_10_1186_s12859_022_04652_8 crossref_primary_10_1159_000516890 crossref_primary_10_3389_fgene_2019_00900 crossref_primary_10_1016_j_jmb_2019_02_027 crossref_primary_10_1136_bmjopen_2019_029539 crossref_primary_10_1038_s41431_018_0139_x crossref_primary_10_1016_j_ipm_2020_102225 crossref_primary_10_1002_jimd_12201 crossref_primary_10_1016_j_ijcard_2020_04_073 crossref_primary_10_1016_j_jid_2019_02_035 crossref_primary_10_1371_journal_pbio_2002846 crossref_primary_10_32604_chd_2022_021580 crossref_primary_10_17650_2222_8721_2022_12_3_10_16 crossref_primary_10_1016_j_isci_2021_102917 crossref_primary_10_1177_1352458517748475 crossref_primary_10_1186_s13023_019_1040_6 crossref_primary_10_1093_bioinformatics_bty933 crossref_primary_10_3390_ijms24021661 crossref_primary_10_1002_ajmg_a_61267 crossref_primary_10_1016_j_ajhg_2021_08_010 crossref_primary_10_1016_j_nmd_2020_08_360 crossref_primary_10_1186_s12864_021_08227_4 crossref_primary_10_1007_s10620_019_06039_x crossref_primary_10_1101_gr_238444_118 crossref_primary_10_1007_s00431_021_04213_w crossref_primary_10_1038_s41591_019_0581_5 |
| Cites_doi | 10.1038/nm.3792 10.1126/scitranslmed.3009262 10.7717/peerj.970 10.1109/TVCG.2016.2598469 10.1182/blood-2016-03-378588 10.1038/nrg.2015.36 10.1371/journal.pgen.1004268 10.1002/humu.22051 10.1371/journal.pone.0050614 10.1038/nprot.2015.124 10.1038/ng0404-323 10.1093/nar/gkn762 10.1534/genetics.116.188870 10.1002/humu.22347 10.1111/cge.12730 10.1016/j.ajhg.2016.07.005 10.1002/humu.22974 10.1002/humu.22842 10.1109/TVCG.2015.2467733 10.1002/humu.22838 10.1186/s13023-016-0462-7 10.1371/journal.pbio.1000247 10.1101/mcs.a000372 10.1002/humu.22836 10.1038/ng.2952 10.1371/journal.pgen.1004224 10.1101/gr.160325.113 10.1093/nar/gku434 10.1186/s13326-016-0047-3 10.1002/humu.22851 10.1093/nar/gkr538 10.1056/NEJMsr1406261 10.1093/nar/gkt1026 10.1038/nn.4267 10.1038/ng.3410 10.1093/nar/gkv1317 10.1093/nar/gkt937 10.1016/j.ajhg.2014.05.003 10.1126/scitranslmed.aad7666 10.1093/nar/gkp427 10.1093/nar/gkh061 10.2196/resprot.2916 10.1038/nmeth.2656 10.1093/jmcb/mjv008 10.1182/blood-2015-10-675629 10.1093/database/bat018 10.1371/journal.pone.0082154 10.1111/cge.12716 10.1093/database/bav005 10.1016/j.fob.2012.04.003 10.1111/j.1469-8749.2011.04032.x 10.1093/database/bat025 10.1038/gim.2016.22 10.1016/j.ajhg.2014.03.018 10.1016/S0140-6736(14)61705-0 10.1038/ng.3243 10.1002/humu.22857 10.1182/blood-2015-12-688267 10.1016/j.ajhg.2008.09.017 10.1371/journal.pcbi.1000443 10.1093/nar/gkt1113 10.1002/humu.22850 10.1038/524503a 10.1016/j.ajhg.2016.01.008 10.1007/s11606-014-2908-8 10.1038/gim.2015.137 10.1093/nar/gkt439 10.1186/s13073-015-0151-5 10.1038/nmeth.3046 10.1002/ajmg.a.37297 10.1136/jmedgenet-2014-102633 10.1093/nar/gks1080 10.1038/nmeth.3484 10.1093/hmg/ddu524 10.1002/humu.22080 10.1002/humu.22858 10.1016/j.ajhg.2015.05.020 10.1186/1471-2105-13-50 10.1186/s13073-016-0261-8 10.1002/humu.22078 10.1038/msb.2011.26 10.1093/nar/gku1205 10.1016/j.ajhg.2014.03.010 10.1038/ncomms9718 10.1093/nar/gkv1068 10.1093/nar/gks1173 10.1371/journal.pbio.1002033 10.1038/nrg3555 10.1016/j.ajhg.2015.06.009 10.1093/bioinformatics/bts471 10.1016/j.ajhg.2013.09.017 10.1038/nbt.1630 10.1186/1755-8794-7-22 10.12688/f1000research.2-30.v1 10.1038/ejhg.2013.274 10.1016/j.ejmg.2013.06.010 10.1016/j.ymgme.2015.11.003 10.1016/j.ajhg.2009.09.003 |
| ContentType | Journal Article |
| Copyright | The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. Distributed under a Creative Commons Attribution 4.0 International License The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. 2017 |
| Copyright_xml | – notice: The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. – notice: Distributed under a Creative Commons Attribution 4.0 International License – notice: The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. 2017 |
| DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 1XC VOOES 5PM |
| DOI | 10.1093/nar/gkw1039 |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access) PubMed Central (Full Participant titles) |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef |
| DatabaseTitleList | MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Anatomy & Physiology Chemistry |
| EISSN | 1362-4962 |
| EndPage | D876 |
| ExternalDocumentID | oai_HAL_hal_04412294v1 10_1093_nar_gkw1039 27899602 |
| Genre | Journal Article Review |
| GrantInformation_xml | – fundername: NIH HHS grantid: R24 OD011883 – fundername: British Heart Foundation grantid: RG/09/012/28096 – fundername: Medical Research Council grantid: G1002274 – fundername: Department of Health grantid: RP-PG-0310-1002 – fundername: NHGRI NIH HHS grantid: U01 HG009453 – fundername: NHGRI NIH HHS grantid: U41 HG000330 – fundername: Medical Research Council grantid: MC_UP_1501/2 |
| GroupedDBID | --- -DZ -~X .I3 0R~ 123 18M 1TH 29N 2WC 4.4 482 53G 5VS 5WA 70E 85S A8Z AAFWJ AAHBH AAMVS AAOGV AAPPN AAPXW AAUQX AAVAP ABPTD ABQLI ABXVV ACGFO ACGFS ACIWK ACNCT ACPRK ADBBV ADHZD AEGXH AENEX AENZO AFFNX AFRAH AFULF AHMBA AIAGR ALMA_UNASSIGNED_HOLDINGS ALUQC AOIJS BAWUL BAYMD BCNDV BTTYL CAG CGR CIDKT CS3 CUY CVF CZ4 DIK DU5 D~K E3Z EBD EBS ECM EIF EJD EMOBN ESTFP F5P GROUPED_DOAJ GX1 H13 HH5 HYE HZ~ IH2 KAQDR KQ8 KSI M49 M~E NPM NU- OAWHX OBC OBS OEB OES OJQWA P2P PEELM PQQKQ R44 RD5 RNS ROL ROX ROZ RPM RXO SV3 TN5 TOX TR2 WG7 WOQ X7H XSB YSK ZKX ~91 ~D7 ~KM AAYXX ABEJV CITATION 1XC VOOES 5PM AFPKN |
| ID | FETCH-LOGICAL-c415t-8c479309214941ca1ca4cf8e9d4a22df5002638293985fdc53a9c8127881ae4b3 |
| IEDL.DBID | RPM |
| ISSN | 0305-1048 |
| IngestDate | Tue Sep 17 21:23:19 EDT 2024 Tue Oct 15 15:23:34 EDT 2024 Fri Dec 06 05:44:44 EST 2024 Wed Oct 16 00:42:25 EDT 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | D1 |
| Language | English |
| License | The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by-nc/4.0 Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c415t-8c479309214941ca1ca4cf8e9d4a22df5002638293985fdc53a9c8127881ae4b3 |
| Notes | PMCID: PMC5210535 |
| ORCID | 0000-0001-5208-3432 0000-0001-5356-4174 |
| OpenAccessLink | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210535/ |
| PMID | 27899602 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_5210535 hal_primary_oai_HAL_hal_04412294v1 crossref_primary_10_1093_nar_gkw1039 pubmed_primary_27899602 |
| PublicationCentury | 2000 |
| PublicationDate | 2017-01-04 |
| PublicationDateYYYYMMDD | 2017-01-04 |
| PublicationDate_xml | – month: 01 year: 2017 text: 2017-01-04 day: 04 |
| PublicationDecade | 2010 |
| PublicationPlace | England |
| PublicationPlace_xml | – name: England |
| PublicationTitle | Nucleic acids research |
| PublicationTitleAlternate | Nucleic Acids Res |
| PublicationYear | 2017 |
| Publisher | Oxford University Press |
| Publisher_xml | – name: Oxford University Press |
| References | 2017010323151470000_45.D1.D865.78 2017010323151470000_45.D1.D865.102 2017010323151470000_45.D1.D865.100 Buske (2017010323151470000_45.D1.D865.54) 2015; 36 Köhler (2017010323151470000_45.D1.D865.56) 2013; 2 2017010323151470000_45.D1.D865.76 2017010323151470000_45.D1.D865.74 2017010323151470000_45.D1.D865.70 2017010323151470000_45.D1.D865.71 2017010323151470000_45.D1.D865.7 2017010323151470000_45.D1.D865.8 2017010323151470000_45.D1.D865.89 2017010323151470000_45.D1.D865.1 2017010323151470000_45.D1.D865.2 2017010323151470000_45.D1.D865.3 2017010323151470000_45.D1.D865.4 2017010323151470000_45.D1.D865.5 2017010323151470000_45.D1.D865.6 Yang (2017010323151470000_45.D1.D865.73) 2015; 12 2017010323151470000_45.D1.D865.80 2017010323151470000_45.D1.D865.87 2017010323151470000_45.D1.D865.88 2017010323151470000_45.D1.D865.85 2017010323151470000_45.D1.D865.86 2017010323151470000_45.D1.D865.83 2017010323151470000_45.D1.D865.84 Covone (2017010323151470000_45.D1.D865.43) 2016; 90 2017010323151470000_45.D1.D865.81 2017010323151470000_45.D1.D865.82 2017010323151470000_45.D1.D865.58 2017010323151470000_45.D1.D865.59 2017010323151470000_45.D1.D865.57 Trakadis (2017010323151470000_45.D1.D865.75) 2014; 7 2017010323151470000_45.D1.D865.55 2017010323151470000_45.D1.D865.52 2017010323151470000_45.D1.D865.53 2017010323151470000_45.D1.D865.50 2017010323151470000_45.D1.D865.51 Basel-Vanagaite (2017010323151470000_45.D1.D865.72) 2016; 89 Bush (2017010323151470000_45.D1.D865.13) 2016; 17 2017010323151470000_45.D1.D865.69 2017010323151470000_45.D1.D865.67 2017010323151470000_45.D1.D865.68 Taruscio (2017010323151470000_45.D1.D865.25) 2015; 116 Glueck (2017010323151470000_45.D1.D865.103) 2016; 22 Chatzimichali (2017010323151470000_45.D1.D865.63) 2015; 36 2017010323151470000_45.D1.D865.65 2017010323151470000_45.D1.D865.66 2017010323151470000_45.D1.D865.64 2017010323151470000_45.D1.D865.61 Morgan (2017010323151470000_45.D1.D865.101) 2014; 3 2017010323151470000_45.D1.D865.62 2017010323151470000_45.D1.D865.60 2017010323151470000_45.D1.D865.38 2017010323151470000_45.D1.D865.39 2017010323151470000_45.D1.D865.36 2017010323151470000_45.D1.D865.37 2017010323151470000_45.D1.D865.34 2017010323151470000_45.D1.D865.35 Albers (2017010323151470000_45.D1.D865.31) 2012; 53 2017010323151470000_45.D1.D865.32 2017010323151470000_45.D1.D865.33 2017010323151470000_45.D1.D865.30 2017010323151470000_45.D1.D865.49 2017010323151470000_45.D1.D865.47 2017010323151470000_45.D1.D865.48 2017010323151470000_45.D1.D865.45 2017010323151470000_45.D1.D865.46 2017010323151470000_45.D1.D865.44 2017010323151470000_45.D1.D865.41 2017010323151470000_45.D1.D865.42 2017010323151470000_45.D1.D865.40 2017010323151470000_45.D1.D865.18 2017010323151470000_45.D1.D865.17 2017010323151470000_45.D1.D865.14 2017010323151470000_45.D1.D865.15 2017010323151470000_45.D1.D865.12 2017010323151470000_45.D1.D865.90 2017010323151470000_45.D1.D865.91 2017010323151470000_45.D1.D865.10 2017010323151470000_45.D1.D865.98 2017010323151470000_45.D1.D865.11 2017010323151470000_45.D1.D865.96 2017010323151470000_45.D1.D865.97 2017010323151470000_45.D1.D865.94 Baynam (2017010323151470000_45.D1.D865.27) 2016; 11 2017010323151470000_45.D1.D865.95 2017010323151470000_45.D1.D865.92 2017010323151470000_45.D1.D865.93 2017010323151470000_45.D1.D865.29 2017010323151470000_45.D1.D865.28 Dhombres (2017010323151470000_45.D1.D865.19) 2016; 7 2017010323151470000_45.D1.D865.26 Shen (2017010323151470000_45.D1.D865.99) 2016; 37 2017010323151470000_45.D1.D865.23 2017010323151470000_45.D1.D865.24 James (2017010323151470000_45.D1.D865.77) 2016; 8 Groza (2017010323151470000_45.D1.D865.9) 2015; 2015 Buske (2017010323151470000_45.D1.D865.16) 2015; 36 2017010323151470000_45.D1.D865.21 2017010323151470000_45.D1.D865.22 2017010323151470000_45.D1.D865.20 Smedley (2017010323151470000_45.D1.D865.79) 2016; 99 |
| References_xml | – ident: 2017010323151470000_45.D1.D865.46 doi: 10.1038/nm.3792 – ident: 2017010323151470000_45.D1.D865.32 doi: 10.1126/scitranslmed.3009262 – ident: 2017010323151470000_45.D1.D865.85 doi: 10.7717/peerj.970 – ident: 2017010323151470000_45.D1.D865.102 doi: 10.1109/TVCG.2016.2598469 – ident: 2017010323151470000_45.D1.D865.48 doi: 10.1182/blood-2016-03-378588 – volume: 17 start-page: 129 year: 2016 ident: 2017010323151470000_45.D1.D865.13 article-title: Unravelling the human genome-phenome relationship using phenome-wide association studies publication-title: Nat. Rev. Genet. doi: 10.1038/nrg.2015.36 contributor: fullname: Bush – ident: 2017010323151470000_45.D1.D865.5 doi: 10.1371/journal.pgen.1004268 – ident: 2017010323151470000_45.D1.D865.89 doi: 10.1002/humu.22051 – ident: 2017010323151470000_45.D1.D865.23 doi: 10.1371/journal.pone.0050614 – ident: 2017010323151470000_45.D1.D865.74 doi: 10.1038/nprot.2015.124 – ident: 2017010323151470000_45.D1.D865.4 doi: 10.1038/ng0404-323 – ident: 2017010323151470000_45.D1.D865.82 doi: 10.1093/nar/gkn762 – ident: 2017010323151470000_45.D1.D865.2 doi: 10.1534/genetics.116.188870 – ident: 2017010323151470000_45.D1.D865.15 doi: 10.1002/humu.22347 – volume: 90 start-page: 182 year: 2016 ident: 2017010323151470000_45.D1.D865.43 article-title: WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease publication-title: Clin. Genet. doi: 10.1111/cge.12730 contributor: fullname: Covone – volume: 99 start-page: 595 year: 2016 ident: 2017010323151470000_45.D1.D865.79 article-title: A whole-genome analysis framework for effective identification of pathogenic regulatory variants in mendelian disease publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.07.005 contributor: fullname: Smedley – volume: 37 start-page: 540 year: 2016 ident: 2017010323151470000_45.D1.D865.99 article-title: MSeqDR: A centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease publication-title: Hum. Mutat. doi: 10.1002/humu.22974 contributor: fullname: Shen – volume: 36 start-page: 941 year: 2015 ident: 2017010323151470000_45.D1.D865.63 article-title: Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER publication-title: Hum. Mutat. doi: 10.1002/humu.22842 contributor: fullname: Chatzimichali – volume: 22 start-page: 101 year: 2016 ident: 2017010323151470000_45.D1.D865.103 article-title: PhenoBlocks: phenotype comparison visualizations publication-title: IEEE Trans. Vis. Comput. Graph. doi: 10.1109/TVCG.2015.2467733 contributor: fullname: Glueck – ident: 2017010323151470000_45.D1.D865.68 doi: 10.1002/humu.22838 – volume: 11 start-page: 77 year: 2016 ident: 2017010323151470000_45.D1.D865.27 article-title: The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service publication-title: Orphanet. J. Rare Dis. doi: 10.1186/s13023-016-0462-7 contributor: fullname: Baynam – ident: 2017010323151470000_45.D1.D865.57 doi: 10.1371/journal.pbio.1000247 – ident: 2017010323151470000_45.D1.D865.58 doi: 10.1101/mcs.a000372 – ident: 2017010323151470000_45.D1.D865.87 doi: 10.1002/humu.22836 – ident: 2017010323151470000_45.D1.D865.60 – ident: 2017010323151470000_45.D1.D865.30 doi: 10.1038/ng.2952 – ident: 2017010323151470000_45.D1.D865.26 doi: 10.1371/journal.pgen.1004224 – ident: 2017010323151470000_45.D1.D865.35 doi: 10.1101/gr.160325.113 – ident: 2017010323151470000_45.D1.D865.91 doi: 10.1093/nar/gku434 – volume: 7 start-page: 3 year: 2016 ident: 2017010323151470000_45.D1.D865.19 article-title: Interoperability between phenotypes in research and healthcare terminologies—investigating partial mappings between HPO and SNOMED CT publication-title: J. Biomed. Semantics doi: 10.1186/s13326-016-0047-3 contributor: fullname: Dhombres – volume: 36 start-page: 931 year: 2015 ident: 2017010323151470000_45.D1.D865.16 article-title: PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases publication-title: Hum. Mutat. doi: 10.1002/humu.22851 contributor: fullname: Buske – ident: 2017010323151470000_45.D1.D865.90 doi: 10.1093/nar/gkr538 – ident: 2017010323151470000_45.D1.D865.67 doi: 10.1056/NEJMsr1406261 – ident: 2017010323151470000_45.D1.D865.8 doi: 10.1093/nar/gkt1026 – ident: 2017010323151470000_45.D1.D865.45 doi: 10.1038/nn.4267 – ident: 2017010323151470000_45.D1.D865.47 doi: 10.1038/ng.3410 – ident: 2017010323151470000_45.D1.D865.12 doi: 10.1093/nar/gkv1317 – ident: 2017010323151470000_45.D1.D865.24 doi: 10.1093/nar/gkt937 – ident: 2017010323151470000_45.D1.D865.69 doi: 10.1016/j.ajhg.2014.05.003 – ident: 2017010323151470000_45.D1.D865.51 doi: 10.1126/scitranslmed.aad7666 – ident: 2017010323151470000_45.D1.D865.80 doi: 10.1093/nar/gkp427 – ident: 2017010323151470000_45.D1.D865.18 doi: 10.1093/nar/gkh061 – volume: 3 start-page: e10 year: 2014 ident: 2017010323151470000_45.D1.D865.101 article-title: Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011 publication-title: JMIR Res. Protoc. doi: 10.2196/resprot.2916 contributor: fullname: Morgan – ident: 2017010323151470000_45.D1.D865.76 doi: 10.1038/nmeth.2656 – ident: 2017010323151470000_45.D1.D865.84 doi: 10.1093/jmcb/mjv008 – ident: 2017010323151470000_45.D1.D865.49 doi: 10.1182/blood-2015-10-675629 – ident: 2017010323151470000_45.D1.D865.93 doi: 10.1093/database/bat018 – ident: 2017010323151470000_45.D1.D865.41 doi: 10.1371/journal.pone.0082154 – volume: 89 start-page: 557 year: 2016 ident: 2017010323151470000_45.D1.D865.72 article-title: Recognition of the cornelia de lange syndrome phenotype with facial dysmorphology novel analysis publication-title: Clin. Genet. doi: 10.1111/cge.12716 contributor: fullname: Basel-Vanagaite – volume: 2015 start-page: bav005 year: 2015 ident: 2017010323151470000_45.D1.D865.9 article-title: Automatic concept recognition using the human phenotype ontology reference and test suite corpora publication-title: Database doi: 10.1093/database/bav005 contributor: fullname: Groza – ident: 2017010323151470000_45.D1.D865.98 doi: 10.1016/j.fob.2012.04.003 – ident: 2017010323151470000_45.D1.D865.61 doi: 10.1111/j.1469-8749.2011.04032.x – ident: 2017010323151470000_45.D1.D865.88 doi: 10.1093/database/bat025 – ident: 2017010323151470000_45.D1.D865.33 doi: 10.1038/gim.2016.22 – ident: 2017010323151470000_45.D1.D865.37 doi: 10.1016/j.ajhg.2014.03.018 – ident: 2017010323151470000_45.D1.D865.62 doi: 10.1016/S0140-6736(14)61705-0 – ident: 2017010323151470000_45.D1.D865.39 doi: 10.1038/ng.3243 – ident: 2017010323151470000_45.D1.D865.53 doi: 10.1002/humu.22857 – ident: 2017010323151470000_45.D1.D865.34 doi: 10.1182/blood-2015-12-688267 – ident: 2017010323151470000_45.D1.D865.1 doi: 10.1016/j.ajhg.2008.09.017 – ident: 2017010323151470000_45.D1.D865.55 doi: 10.1371/journal.pcbi.1000443 – ident: 2017010323151470000_45.D1.D865.97 doi: 10.1093/nar/gkt1113 – volume: 36 start-page: 922 year: 2015 ident: 2017010323151470000_45.D1.D865.54 article-title: The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles publication-title: Hum. Mutat. doi: 10.1002/humu.22850 contributor: fullname: Buske – ident: 2017010323151470000_45.D1.D865.65 doi: 10.1038/524503a – ident: 2017010323151470000_45.D1.D865.50 doi: 10.1016/j.ajhg.2016.01.008 – ident: 2017010323151470000_45.D1.D865.28 doi: 10.1007/s11606-014-2908-8 – ident: 2017010323151470000_45.D1.D865.66 doi: 10.1038/gim.2015.137 – ident: 2017010323151470000_45.D1.D865.81 doi: 10.1093/nar/gkt439 – ident: 2017010323151470000_45.D1.D865.14 – ident: 2017010323151470000_45.D1.D865.44 doi: 10.1186/s13073-015-0151-5 – ident: 2017010323151470000_45.D1.D865.78 doi: 10.1038/nmeth.3046 – ident: 2017010323151470000_45.D1.D865.40 doi: 10.1002/ajmg.a.37297 – ident: 2017010323151470000_45.D1.D865.92 doi: 10.1136/jmedgenet-2014-102633 – volume: 53 start-page: 1 year: 2012 ident: 2017010323151470000_45.D1.D865.31 article-title: Data-driven phenomic analysis of epileptic encephalopathy phenotypes using an ontology-based phenotype database publication-title: Euroepinomics Res. contributor: fullname: Albers – ident: 2017010323151470000_45.D1.D865.96 doi: 10.1093/nar/gks1080 – volume: 12 start-page: 841 year: 2015 ident: 2017010323151470000_45.D1.D865.73 article-title: Phenolyzer: phenotype-based prioritization of candidate genes for human diseases publication-title: Nat Methods doi: 10.1038/nmeth.3484 contributor: fullname: Yang – ident: 2017010323151470000_45.D1.D865.42 doi: 10.1093/hmg/ddu524 – ident: 2017010323151470000_45.D1.D865.6 doi: 10.1002/humu.22080 – ident: 2017010323151470000_45.D1.D865.52 doi: 10.1002/humu.22858 – ident: 2017010323151470000_45.D1.D865.10 doi: 10.1016/j.ajhg.2015.05.020 – ident: 2017010323151470000_45.D1.D865.22 doi: 10.1186/1471-2105-13-50 – volume: 8 start-page: 13 year: 2016 ident: 2017010323151470000_45.D1.D865.77 article-title: A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics publication-title: Genome Med. doi: 10.1186/s13073-016-0261-8 contributor: fullname: James – ident: 2017010323151470000_45.D1.D865.3 doi: 10.1002/humu.22078 – ident: 2017010323151470000_45.D1.D865.86 doi: 10.1038/msb.2011.26 – ident: 2017010323151470000_45.D1.D865.95 doi: 10.1093/nar/gku1205 – ident: 2017010323151470000_45.D1.D865.36 doi: 10.1016/j.ajhg.2014.03.010 – ident: 2017010323151470000_45.D1.D865.38 doi: 10.1038/ncomms9718 – ident: 2017010323151470000_45.D1.D865.100 doi: 10.1093/nar/gkv1068 – ident: 2017010323151470000_45.D1.D865.94 doi: 10.1093/nar/gks1173 – ident: 2017010323151470000_45.D1.D865.7 doi: 10.1371/journal.pbio.1002033 – ident: 2017010323151470000_45.D1.D865.20 doi: 10.1038/nrg3555 – ident: 2017010323151470000_45.D1.D865.21 doi: 10.1016/j.ajhg.2015.06.009 – ident: 2017010323151470000_45.D1.D865.71 doi: 10.1093/bioinformatics/bts471 – ident: 2017010323151470000_45.D1.D865.29 doi: 10.1016/j.ajhg.2013.09.017 – ident: 2017010323151470000_45.D1.D865.83 doi: 10.1038/nbt.1630 – volume: 7 start-page: 22 year: 2014 ident: 2017010323151470000_45.D1.D865.75 article-title: PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes publication-title: BMC Med. Genomics doi: 10.1186/1755-8794-7-22 contributor: fullname: Trakadis – volume: 2 start-page: 30 year: 2013 ident: 2017010323151470000_45.D1.D865.56 article-title: Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research publication-title: F1000 Res. doi: 10.12688/f1000research.2-30.v1 contributor: fullname: Köhler – ident: 2017010323151470000_45.D1.D865.11 doi: 10.1038/ejhg.2013.274 – ident: 2017010323151470000_45.D1.D865.64 doi: 10.1016/j.ejmg.2013.06.010 – volume: 116 start-page: 223 year: 2015 ident: 2017010323151470000_45.D1.D865.25 article-title: Undiagnosed diseases network international (UDNI): white paper for global actions to meet patient needs publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2015.11.003 contributor: fullname: Taruscio – ident: 2017010323151470000_45.D1.D865.70 doi: 10.1016/j.ajhg.2009.09.003 – ident: 2017010323151470000_45.D1.D865.59 – ident: 2017010323151470000_45.D1.D865.17 |
| SSID | ssj0014154 |
| Score | 2.707916 |
| SecondaryResourceType | review_article |
| Snippet | Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are... |
| SourceID | pubmedcentral hal crossref pubmed |
| SourceType | Open Access Repository Aggregation Database Index Database |
| StartPage | D865 |
| SubjectTerms | Algorithms Biological Ontologies Computational Biology Computational Biology - methods Database Issue Genetic Association Studies Genetic Association Studies - methods Genomics Genomics - methods Human health and pathology Humans Life Sciences Phenotype Precision Medicine Precision Medicine - methods Rare Diseases Rare Diseases - diagnosis Rare Diseases - etiology Software Translational Research, Biomedical Translational Research, Biomedical - methods |
| Title | The Human Phenotype Ontology in 2017 |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/27899602 https://hal.sorbonne-universite.fr/hal-04412294 https://pubmed.ncbi.nlm.nih.gov/PMC5210535 |
| Volume | 45 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Nb4IwGH6jXrbLsuk-2Ichi9kNgVKkHI3ZYpY5d9DEG4HaTrNZjXFb_Pd7W8CM6xLCAQopD02e96vPC9BJ4x7xJFpujItMtzDLnDRksSP9VFDfz0LG9Qbn0WtvOKXPs3BWg7DcC2OK9nm27KrPVVctF6a2crPiblkn5r6NBkg5WpbErUMd6bd00YvUATJSrhllJDYpKzbloefuqnTrvn_86OynFgGOmJYmIRVGqi90PeSBjKqFkn-Y5-kUTgqT0e7nUzuDmlBNaPUVusurvf1gmyJOEx1vwtGgbODWgg4uAdsE6XGIUGsdbbXHyjSs3dtLZSMrR-cwfXqcDIZO0RTB4fhlO8RUx8K8mKBrQ32e4kG5ZCKe05SQuQy1VxUwZPGYhXLOwyCNObK4lo1H-LPgAhpqrcQV2JIwT-hUoESfSSuRUUpEJFnEpBfIkFvQKYFJNrn2RZLnrIMEoUwKKC24R9AOI7Re9bD_kuhrHhpbhMT027fgMofyMK6E34KoAnLlRdU7uB6MAHbx_6___eQNHGuITSiF3kJjt_0Sd2hc7LK2ccrbZknheTKe_QJ9Sc24 |
| link.rule.ids | 230,314,727,780,784,864,885,27924,27925,53791,53793 |
| linkProvider | National Library of Medicine |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT4NAEJ5YPdSL8S0-iWm8tcCyK8uxaWyqtuqhTXojsN21jXbbmKrx3zu7QCNXE06wEPiY5JvXfgPQSONb4iv03LiQmRlhljVTxuOmClJJgyBjXJgNzoOn296IPozZeANYuRfGNu2LbNbS7_OWnk1tb-VyLryyT8x7GXSQcowsiVeDLRZGcVAG6UXxADkpV42yIpuUF9vyMHb3dPrhvb59m_qnkQGOuBEnIRVOqk1NR-Sajqqtkn-4p7sLO4XT6Lbzl9uDDan34aCtMWCe_7g3rm3jtPnxfah3yhFuB9BAI3Btmh6XSL0w-Vb3WduRtT_uTLvIy9EhjLp3w06vWYxFaAr8shWiarJhfkwwuKGBSPGgQnEZT2hKyEQxE1eFHHk85kxNBAvTWCCPG-F4_AFZeASbeqHlCbiKcF-aYqDCqMlokVFKZKR4xJUfKiYcaJTAJMtc_SLJq9ZhglAmBZQOXCNo6xVGsbrX7ifmnI_uFiEx_QocOM6hXK8r4XcgqoBceVD1ClqElcAuLOD033deQb03HPST_v3T4xlsG7htYoWew-bq41NeoKuxyi6tYf0C0G_O_A |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT4NAEJ5oTdSL0dYHPolpvFVgWcpybKpN1bZ6sIk3Attd22i3TVM1_ffOLtDI1YQTLAQ-Jvnmtd8A1JOoSVyJnhvjItUjzNJGErCoIb1EUM9LA8b1Buf-oNkd0se34O3PqC_TtM_Tya36nN6qydj0Vs6n3Cn6xJyXfhspR8uSOPORdDZhK_DRyIpAPS8gIC9lylFGaJOyfGsexu-OShbO-8eProFqKeCQaYESUuKlzbHuilxTUrld8g__dPZhL3cc7Vb2ggewIVQVai2FQfN0Zd_YppXT5MirsNMuxrjVoI6GYJtUPS4RaqZzrvazMmNrV_ZE2cjN4SEMO_ev7W4jH43Q4PhlS0RWZ8TciGCAQz2e4EG5ZCIa0YSQkQx0bOUz5PKIBXLEAz-JOHK5Fo_Hn5D6R1BRMyVOwJaEuUIXBCVGTlqPjFIiQslCJl1fBtyCegFMPM8UMOKscu3HCGWcQ2nBNYK2XqFVq7utXqzPuehyERLRb8-C4wzK9boCfgvCEsilB5WvoFUYGezcCk7_fecVbL_cdeLew-DpDHY12ia3Qs-hslx8iQv0NpbppbGrX-yK0A8 |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+Human+Phenotype+Ontology+in+2017&rft.jtitle=Nucleic+acids+research&rft.au=K%C3%B6hler%2C+Sebastian&rft.au=Vasilevsky%2C+Nicole+A&rft.au=Engelstad%2C+Mark&rft.au=Foster%2C+Erin&rft.date=2017-01-04&rft.pub=Oxford+University+Press&rft.issn=0305-1048&rft.eissn=1362-4962&rft.volume=45&rft.issue=D1&rft.spage=D865&rft.epage=D876&rft_id=info:doi/10.1093%2Fnar%2Fgkw1039&rft_id=info%3Apmid%2F27899602&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=oai_HAL_hal_04412294v1 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0305-1048&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0305-1048&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0305-1048&client=summon |