Publication Information

{'id': 'https://openalex.org/W2413391814', 'doi': 'https://doi.org/10.3760/cma.j.issn.1003-9406.2011.05.011', 'title': '[Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders].', 'display_name': '[Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders].', 'publication_year': 2011, 'publication_date': '2011-10-01', 'ids': {'openalex': 'https://openalex.org/W2413391814', 'doi': 'https://doi.org/10.3760/cma.j.issn.1003-9406.2011.05.011', 'mag': '2413391814', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/21983726'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/21983726', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['pubmed'], '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/A5045981990', 'display_name': 'Rebiya Nuli', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I154093214', 'display_name': 'Xinjiang Medical University', 'ror': 'https://ror.org/01p455v08', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I154093214']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Nuli Rebiya', 'raw_affiliation_strings': ["Department of Occupational and Environmental Health, Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China."], 'affiliations': [{'raw_affiliation_string': "Department of Occupational and Environmental Health, Xinjiang Medical University, Urumqi, Xinjiang, People's Republic of China.", 'institution_ids': ['https://openalex.org/I154093214']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5052950619', 'display_name': 'Patamu Mohemaiti', 'orcid': 'https://orcid.org/0000-0003-1778-6380'}, 'institutions': [{'id': 'https://openalex.org/I154093214', 'display_name': 'Xinjiang Medical University', 'ror': 'https://ror.org/01p455v08', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I154093214']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Mohemaiti Patamu', 'raw_affiliation_strings': ['Department of Occupational and Environmental Health, School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, 830011 P.R. China'], 'affiliations': [{'raw_affiliation_string': 'Department of Occupational and Environmental Health, School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, 830011 P.R. China', 'institution_ids': ['https://openalex.org/I154093214']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.043, 'has_fulltext': False, 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.085063, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 65, 'max': 72}, 'biblio': {'volume': '28', 'issue': '5', 'first_page': '525', 'last_page': '7'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11642', 'display_name': 'Genomics and Rare Diseases', 'score': 0.8912, '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'}}, 'topics': [{'id': 'https://openalex.org/T11642', 'display_name': 'Genomics and Rare Diseases', 'score': 0.8912, '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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/exome', 'display_name': 'Exome', 'score': 0.6866381}, {'id': 'https://openalex.org/keywords/mendelian-inheritance', 'display_name': 'Mendelian inheritance', 'score': 0.56417257}], 'concepts': [{'id': 'https://openalex.org/C16671776', 'wikidata': 'https://www.wikidata.org/wiki/Q5420592', 'display_name': 'Exome sequencing', 'level': 4, 'score': 0.8726028}, {'id': 'https://openalex.org/C51679486', 'wikidata': 'https://www.wikidata.org/wiki/Q380546', 'display_name': 'DNA sequencing', 'level': 3, 'score': 0.71332824}, {'id': 'https://openalex.org/C10590036', 'wikidata': 'https://www.wikidata.org/wiki/Q417664', 'display_name': 'Exome', 'level': 5, 'score': 0.6866381}, {'id': 'https://openalex.org/C70721500', 'wikidata': 'https://www.wikidata.org/wiki/Q177005', 'display_name': 'Computational biology', 'level': 1, 'score': 0.59284705}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5863475}, {'id': 'https://openalex.org/C175783326', 'wikidata': 'https://www.wikidata.org/wiki/Q185055', 'display_name': 'Mendelian inheritance', 'level': 3, 'score': 0.56417257}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.4938031}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.48581338}, {'id': 'https://openalex.org/C60644358', 'wikidata': 'https://www.wikidata.org/wiki/Q128570', 'display_name': 'Bioinformatics', 'level': 1, 'score': 0.37383744}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.17327115}], 'mesh': [{'descriptor_ui': 'D059472', 'descriptor_name': 'Exome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D056726', 'descriptor_name': 'Genetic Association Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D030342', 'descriptor_name': 'Genetic Diseases, Inborn', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D059472', 'descriptor_name': 'Exome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D030342', 'descriptor_name': 'Genetic Diseases, Inborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/21983726', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, '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/W3032177869', 'https://openalex.org/W2651994024', 'https://openalex.org/W25949066', 'https://openalex.org/W2519383881', 'https://openalex.org/W2172231381', 'https://openalex.org/W2113708782', 'https://openalex.org/W2026516410', 'https://openalex.org/W2013358304', 'https://openalex.org/W1992112438', 'https://openalex.org/W1576119957'], 'abstract_inverted_index': {'The': [0], 'development': [1], 'of': [2, 14, 35, 52, 66, 70, 79, 85], 'new': [3, 9], 'generation': [4], 'sequencing': [5, 17, 81], 'technologies': [6], 'has': [7, 18, 29, 43], 'brought': [8], 'opportunities': [10], 'for': [11], 'the': [12, 50, 67, 83], 'study': [13, 84], 'diseases.': [15, 87], 'Exome': [16], 'shown': [19], 'to': [20], 'be': [21], 'an': [22], 'effective,': [23], 'rapid,': [24], 'high': [25], 'performance': [26], 'technique': [27], 'that': [28], 'already': [30, 44], 'been': [31, 45], 'used': [32], 'in': [33, 49, 82], 'research': [34], 'inherited': [36], 'diseases': [37], 'such': [38], 'as': [39], 'monogenic': [40, 53], 'disorders.': [41, 72], 'It': [42], 'approved': [46], 'by': [47], 'scientists': [48], 'field': [51], 'disorder': [54], 'study,': [55], 'and': [56], 'will': [57, 63], 'become': [58], 'widely': [59], 'used.': [60], 'This': [61, 73], 'approach': [62], 'accelerate': [64], 'discovery': [65], 'causative': [68], 'genes': [69], 'Mendelian': [71], 'article': [74], 'reviews': [75], 'some': [76], 'recent': [77], 'applications': [78], 'exome': [80], 'gene-related': [86]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2413391814', 'counts_by_year': [{'year': 2013, 'cited_by_count': 1}], 'updated_date': '2024-12-16T13:52:55.242283', 'created_date': '2016-06-24'}