Publication Information

{'id': 'https://openalex.org/W4399482383', 'doi': 'https://doi.org/10.1136/annrheumdis-2024-eular.2959', 'title': 'POS0190 POLYGENIC RISK SCORE ANALYSIS USING GRAPH CONVOLUTIONAL NETWORKS FOR PREDICTING AUTOIMMUNE DISEASE DEVELOPMENT', 'display_name': 'POS0190 POLYGENIC RISK SCORE ANALYSIS USING GRAPH CONVOLUTIONAL NETWORKS FOR PREDICTING AUTOIMMUNE DISEASE DEVELOPMENT', 'publication_year': 2024, 'publication_date': '2024-06-01', 'ids': {'openalex': 'https://openalex.org/W4399482383', 'doi': 'https://doi.org/10.1136/annrheumdis-2024-eular.2959'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1136/annrheumdis-2024-eular.2959', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'proceedings-article', 'indexed_in': ['crossref'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5081473281', 'display_name': 'Satoshi Honda', 'orcid': 'https://orcid.org/0000-0001-5289-5078'}, 'institutions': [{'id': 'https://openalex.org/I4210136522', 'display_name': "Tokyo Women's Medical University", 'ror': 'https://ror.org/03kjjhe36', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I4210136522']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'S. Honda', 'raw_affiliation_strings': ["Tokyo Women's Medical University School of Medicine, Division of Rheumatology, Department of Internal Medicine, Shinjuku"], 'affiliations': [{'raw_affiliation_string': "Tokyo Women's Medical University School of Medicine, Division of Rheumatology, Department of Internal Medicine, Shinjuku", 'institution_ids': ['https://openalex.org/I4210136522']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027098647', 'display_name': 'Keisuke Ikari', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210136522', 'display_name': "Tokyo Women's Medical University", 'ror': 'https://ror.org/03kjjhe36', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I4210136522']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'K. Ikari', 'raw_affiliation_strings': ["Tokyo Women's Medical University School of Medicine, Department of Orthopedic Surgery, Shinjuku, Japan"], 'affiliations': [{'raw_affiliation_string': "Tokyo Women's Medical University School of Medicine, Department of Orthopedic Surgery, Shinjuku, Japan", 'institution_ids': ['https://openalex.org/I4210136522']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005705284', 'display_name': 'Chikashi Terao', 'orcid': 'https://orcid.org/0000-0002-6452-4095'}, 'institutions': [{'id': 'https://openalex.org/I4210150921', 'display_name': 'RIKEN Center for Integrative Medical Sciences', 'ror': 'https://ror.org/04mb6s476', 'country_code': 'JP', 'type': 'facility', 'lineage': ['https://openalex.org/I4210110652', 'https://openalex.org/I4210150921']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'C. Terao', 'raw_affiliation_strings': ['RIKEN Center for Integrative Medical Sciences, Laboratory for Statistical and Translational Genetics, Yokohama, Japan'], 'affiliations': [{'raw_affiliation_string': 'RIKEN Center for Integrative Medical Sciences, Laboratory for Statistical and Translational Genetics, Yokohama, Japan', 'institution_ids': ['https://openalex.org/I4210150921']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5085365180', 'display_name': 'M. Harigai', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210136522', 'display_name': "Tokyo Women's Medical University", 'ror': 'https://ror.org/03kjjhe36', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I4210136522']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'M. Harigai', 'raw_affiliation_strings': ["Tokyo Women's Medical University School of Medicine, Division of Rheumatology, Department of Internal Medicine, Shinjuku, Japan"], 'affiliations': [{'raw_affiliation_string': "Tokyo Women's Medical University School of Medicine, Division of Rheumatology, Department of Internal Medicine, Shinjuku, Japan", 'institution_ids': ['https://openalex.org/I4210136522']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5085808815', 'display_name': 'Yuta Kochi', 'orcid': 'https://orcid.org/0000-0001-7711-6480'}, 'institutions': [{'id': 'https://openalex.org/I125602781', 'display_name': 'Tokyo Medical and Dental University', 'ror': 'https://ror.org/051k3eh31', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I125602781']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Y. Kochi', 'raw_affiliation_strings': ['Tokyo Medical and Dental University, Department of Genomic Function and Diversity, Medical Research Institute, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Tokyo Medical and Dental University, Department of Genomic Function and Diversity, Medical Research Institute, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I125602781']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, 'cited_by_count': 0, 'citation_normalized_percentile': {'value': 0.0, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 0, 'max': 84}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10885', 'display_name': 'Gene expression and cancer classification', 'score': 0.9541, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10885', 'display_name': 'Gene expression and cancer classification', 'score': 0.9541, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10261', 'display_name': 'Genetic Associations and Epidemiology', 'score': 0.9501, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10887', 'display_name': 'Bioinformatics and Genomic Networks', 'score': 0.9477, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/ptpn22', 'display_name': 'PTPN22', 'score': 0.67408025}, {'id': 'https://openalex.org/keywords/personalized-medicine', 'display_name': 'Personalized Medicine', 'score': 0.46263948}], 'concepts': [{'id': 'https://openalex.org/C2779356809', 'wikidata': 'https://www.wikidata.org/wiki/Q3888227', 'display_name': 'PTPN22', 'level': 5, 'score': 0.67408025}, {'id': 'https://openalex.org/C116567970', 'wikidata': 'https://www.wikidata.org/wiki/Q864217', 'display_name': 'Biobank', 'level': 2, 'score': 0.65675974}, {'id': 'https://openalex.org/C2777575956', 'wikidata': 'https://www.wikidata.org/wiki/Q187255', 'display_name': 'Rheumatoid arthritis', 'level': 2, 'score': 0.5467866}, {'id': 'https://openalex.org/C2779134260', 'wikidata': 'https://www.wikidata.org/wiki/Q12136', 'display_name': 'Disease', 'level': 2, 'score': 0.51204115}, {'id': 'https://openalex.org/C72563966', 'wikidata': 'https://www.wikidata.org/wiki/Q1303415', 'display_name': 'Cohort', 'level': 2, 'score': 0.46433815}, {'id': 'https://openalex.org/C32220436', 'wikidata': 'https://www.wikidata.org/wiki/Q2072214', 'display_name': 'Personalized medicine', 'level': 2, 'score': 0.46263948}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.43267173}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.4144403}, {'id': 'https://openalex.org/C153209595', 'wikidata': 'https://www.wikidata.org/wiki/Q501128', 'display_name': 'Single-nucleotide polymorphism', 'level': 4, 'score': 0.41059655}, {'id': 'https://openalex.org/C70721500', 'wikidata': 'https://www.wikidata.org/wiki/Q177005', 'display_name': 'Computational biology', 'level': 1, 'score': 0.3686445}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.3586132}, {'id': 'https://openalex.org/C60644358', 'wikidata': 'https://www.wikidata.org/wiki/Q128570', 'display_name': 'Bioinformatics', 'level': 1, 'score': 0.24153411}, {'id': 'https://openalex.org/C203014093', 'wikidata': 'https://www.wikidata.org/wiki/Q101929', 'display_name': 'Immunology', 'level': 1, 'score': 0.22981596}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.19520578}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.14418834}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.120824456}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.10477647}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1136/annrheumdis-2024-eular.2959', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W4384208482', 'https://openalex.org/W4244742767', 'https://openalex.org/W4226156868', 'https://openalex.org/W4226051228', 'https://openalex.org/W3113746618', 'https://openalex.org/W3017691140', 'https://openalex.org/W2470939431', 'https://openalex.org/W2323349009', 'https://openalex.org/W2238249811', 'https://openalex.org/W2024651825'], 'abstract_inverted_index': {'<h3>Background:</h3>': [0], 'Existing': [1], 'linear': [2], 'polygenic': [3], 'risk': [4, 18, 50, 325, 368, 402, 433], 'score': [5], '(PRS)': [6], 'models': [7, 136, 224, 230, 271], 'for': [8, 16, 99, 234, 254, 272, 285, 302, 311, 332, 469], 'autoimmune': [9, 100, 109, 239, 275, 305, 470], 'diseases': [10, 110, 125, 240, 306], 'have': [11], 'limitations': [12], 'in': [13, 30, 231, 416, 453], 'accurately': [14], 'accounting': [15], 'non-additive': [17], 'effects': [19], 'and': [20, 52, 84, 122, 147, 163, 178, 186, 228, 337, 410], 'interactions': [21], 'between': [22, 419], 'HLA': [23, 216, 324, 456], 'haplotypes': [24], '[1-2],': [25], 'which': [26], 'are': [27], 'key': [28], 'aspects': [29], 'the': [31, 47, 53, 75, 104, 131, 160, 190, 205, 215, 221, 237, 255, 265, 273, 278, 282, 321, 342, 349, 396, 425, 454, 464], 'genetic': [32], 'composition': [33], 'of': [34, 49, 71, 78, 107, 140, 168, 236, 281, 323, 352, 428, 466, 511], 'these': [35, 65], 'diseases.': [36, 101, 257, 471], 'Graph': [37], 'Convolutional': [38], 'Networks': [39], '(GCNs),': [40], 'with': [41, 241, 277, 367, 413, 445], 'their': [42, 149], 'capacity': [43], 'to': [44, 63, 172, 198, 204, 251, 269, 299, 381, 400, 463], 'integrate': [45], 'both': [46], 'genotypes': [48], 'variants': [51], 'genotypic': [54, 105], 'relationships': [55], 'among': [56], 'samples': [57], '[3],': [58], 'present': [59], 'a': [60, 69, 86, 138, 179, 328, 373, 387, 441, 461], 'potential': [61], 'approach': [62], 'overcome': [64], 'limitations.': [66], 'However,': [67, 247], "there's": [68], 'lack': [70], 'extensive': [72], 'research': [73], 'validating': [74], 'diagnostic': [76], 'capabilities': [77], 'GCN-based': [79, 87, 442], 'PRS.': [80], '<h3>Objectives:</h3>': [81], 'To': [82], 'develop': [83], 'validate': [85], 'PRS': [88, 223, 443, 450], 'model': [89, 284, 444], '(GRAF-AID,': [90], 'Graph-based': [91], 'Risk': [92], 'Assessment': [93], 'For': [94, 155], 'Auto': [95], 'Immune': [96], 'Disease)': [97], 'specialized': [98], '<h3>Methods:</h3>': [102], 'Using': [103], 'data': [106], 'four': [108, 238, 274, 304, 343], '(rheumatoid': [111], 'arthritis': [112], '(RA),': [113], 'multiple': [114], 'sclerosis': [115], '(MS),': [116], 'psoriasis': [117], '(PSO),': [118], 'celiac': [119], 'disease': [120, 401, 432], '(CEL))': [121], 'two': [123], 'non-autoimmune': [124, 256], '(Atrial': [126], 'Fibrillation,': [127], "Alzheimer's": [128], 'disease)': [129], 'from': [130, 214, 261, 348], 'UK': [132], 'Biobank.': [133], 'We': [134, 340], 'constructed': [135, 174, 211], 'on': [137, 151, 320, 355, 431], 'cohort': [139], '20,000': [141], 'British': [142], 'Whites': [143], 'using': [144, 184, 212], '5-fold': [145], 'cross-validation': [146], 'tested': [148], 'performance': [150, 167], '10,000': [152], 'non-British': [153], 'Whites.': [154], 'RA,': [156], 'we': [157], 'also': [158, 330], 'used': [159], 'BioBank': [161], 'Japan': [162, 548, 570, 579, 600], 'IORRA': [164], 'data.': [165], 'The': [166], 'GRAF-AID': [169, 218, 248, 266, 291], 'were': [170], 'compared': [171, 298], 'those': [173], 'by': [175], 'PRSice-2,': [176, 226], 'PRScs,': [177, 227], 'Simple': [180], 'Neural': [181], 'Net': [182], '(SNN)': [183], 'AUC': [185], "Nagelkerke's": [187, 295], 'R2.': [188], 'Additionally,': [189, 290], 'Layer-wise': [191], 'Relevance': [192], 'Propagation': [193], '(LRP)': [194], 'technique': [195], 'was': [196, 249, 267, 362], 'employed': [197], 'visualize': [199], 'how': [200], 'individual': [201], 'SNPs': [202, 213, 260, 412], 'contribute': [203], "models'": [206], 'predictive': [207], 'accuracy.': [208], '<h3>Results:</h3>': [209], 'When': [210, 258], 'region,': [217], 'consistently': [219], 'outperformed': [220], 'conventional': [222], 'including': [225], 'SNN': [229, 283], 'all': [232, 262, 303], 'comparisons': [233], 'each': [235], 'p-values': [242], '&lt;0.05': [243], '(Figure': [244, 287, 307, 313, 358, 408, 422], '1A': [245, 288], 'left).': [246], 'comparable': [250], 'other': [252, 270, 300], 'methods': [253, 301], 'utilizing': [259], 'genomic': [263], 'regions,': [264], 'superior': [268], 'diseases,': [276], 'sole': [279], 'exception': [280], 'RA': [286, 312], 'right).': [289], 'demonstrated': [292], '20-50%': [293], 'higher': [294, 446], 'R2': [296], 'values': [297], '1B).': [308], 'GCN': [309], 'visualization': [310], '2A': [314, 359], 'upper)': [315], 'revealed': [316], 'networks': [317, 346, 353, 365, 379, 407, 421], 'formed': [318], 'based': [319, 354], 'count': [322], 'allele': [326], 'DRB1*04:01,': [327], 'pattern': [329], 'observed': [331, 363], 'MS': [333], '(DRB1*15:01),': [334], 'PSO': [335], '(B*57:01),': [336], 'CEL': [338], '(DQB1*02:01).': [339], 'extracted': [341], 'major': [344], 'connected': [345, 406, 420, 435], '(N1-N4)': [347], 'complete': [350], 'set': [351], 'sample': [356], 'size': [357], 'lower).': [360], 'It': [361], 'that': [364], 'associated': [366], 'alleles': [369, 383], '(N3,': [370], 'N4)': [371], 'exhibited': [372], 'high': [374, 388], 'true': [375, 389], 'positive': [376], 'rate,': [377], 'while': [378], 'related': [380], 'null': [382], '(N1,': [384], 'N2)': [385], 'showed': [386], 'negative': [390], 'rate.': [391], 'Further,': [392], 'LRP': [393, 417], 'analysis': [394], 'highlighted': [395], 'variable': [397], 'SNP': [398], 'contributions': [399], 'prediction': [403], 'across': [404, 434], 'different': [405], '2B),': [409], 'identified': [411], 'significant': [414], 'variation': [415], 'scores': [418], '2C),': [423], 'indicating': [424], 'differential': [426], 'impact': [427], 'specific': [429], 'loci': [430], 'networks.': [436], '<h3>Conclusion:</h3>': [437], 'Our': [438], 'study': [439], 'developed': [440], 'accuracy': [447], 'than': [448], 'existing': [449], 'models,': [451], 'especially': [452], 'complex': [455], 'region.': [457], 'This': [458], 'advance': [459], 'suggests': [460], 'contribution': [462], 'field': [465], 'precision': [467], 'medicine': [468], '<h3>REFERENCES:</h3>': [472], '[1]': [473], 'Lenz': [474], 'TL,': [475], 'et': [476, 486, 501], 'al.': [477, 487, 502], 'Nat': [478, 503], 'Genet': [479], '2015;': [480], '47:': [481], '1085–90.': [482], '[2]': [483], 'Lincoln': [484], 'MR,': [485], 'Proc': [488], 'Natl': [489], 'Acad': [490], 'Sci': [491], 'U': [492], 'S': [493], 'A': [494], '2009;': [495], '106:': [496], '7542–7.': [497], '[3]': [498], 'Wang': [499], 'T,': [500], 'Commun': [504], '2021;': [505], '12:': [506], '3445.': [507], '<h3>Acknowledgements:</h3>': [508], '<b>NIL.</b>': [509], '<h3>Disclosure': [510], 'Interests:</h3>': [512], 'Suguru': [513], 'Honda:': [514], 'None': [515, 543, 655], 'declared,': [516, 544], 'Katsunori': [517], 'Ikari': [518], 'Ayumi': [519, 550, 608], 'Pharmaceutical': [520, 523, 531, 551, 563, 575, 581, 594, 609, 616, 625, 643, 647], 'Corp.,': [521, 604], 'Chugai': [522, 562, 615], 'Co.,': [524, 529, 532, 536, 552, 560, 564, 566, 576, 582, 592, 595, 610, 614, 617, 622, 626, 631, 634, 640, 644, 648], 'Ltd.,': [525, 533, 537, 540, 561, 577, 583, 586, 596, 618, 623, 627, 635, 641, 645, 649, 652], 'Mitsubishi': [526, 628], 'Tanabe': [527, 629], 'Pharma': [528, 539, 585, 606, 630, 651], 'Mochida': [530], 'Nippon': [534, 632], 'Kayaku': [535, 633], 'Teijin': [538, 584, 597, 650], 'Chikashi': [541], 'Terao:': [542], 'Masayoshi': [545], 'Harigai': [546], 'AbbVie': [547, 599], 'GK.,': [549, 601], 'Boehringer': [553], 'Ingelheim': [554], 'Japan,': [555], 'Inc.,': [556, 607, 620], 'Bristol': [557, 589, 611], 'Myers': [558, 590, 612], 'Squibb': [559, 591, 613], 'Ltd.,Eisai': [565], 'Ltd.': [567], 'Eli': [568], 'Lilly': [569], 'K.K.,': [571, 573], 'GlaxoSmithKline': [572], 'Kissei': [574, 593, 624], 'Pfizer': [578], 'Inc.,Takeda': [580], 'AbbVie,': [587], 'Boehringer-Ingelheim.,': [588], 'Pharma.,': [598], 'Asahi': [602], 'Kasei': [603], 'Astellas': [605], 'Daiichi-Sankyo,': [619], 'Eisai': [621], 'Sekisui': [636], 'Medical,': [637], 'Shionogi': [638], '&amp;': [639], 'Taisho': [642], 'Takeda': [646], 'Yuta': [653], 'Kochi:': [654], 'declared.': [656]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4399482383', 'counts_by_year': [], 'updated_date': '2024-12-07T23:56:53.039905', 'created_date': '2024-06-11'}