{"id":"https://openalex.org/W2767157762","doi":"https://doi.org/10.1093/nar/gkx1039","title":"VarCards: an integrated genetic and clinical database for coding variants in the human genome","display_name":"VarCards: an integrated genetic and clinical database for coding variants in the human genome","publication_year":2017,"publication_date":"2017-10-18","ids":{"openalex":"https://openalex.org/W2767157762","doi":"https://doi.org/10.1093/nar/gkx1039","mag":"2767157762","pmid":"https://pubmed.ncbi.nlm.nih.gov/29112736"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkx1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkx1039","pdf_url":"https://academic.oup.com/nar/article-pdf/46/D1/D1039/23162130/gkx1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/46/D1/D1039/23162130/gkx1039.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5052851316","display_name":"Jinchen Li","orcid":"https://orcid.org/0009-0002-3893-8128"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]},{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jinchen Li","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China","National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]},{"raw_affiliation_string":"Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]},{"raw_affiliation_string":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I4210159865","https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042185564","display_name":"Leisheng Shi","orcid":"https://orcid.org/0000-0003-3795-3641"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Leisheng Shi","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100342359","display_name":"Kun Zhang","orcid":"https://orcid.org/0000-0002-7596-5224"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Kun Zhang","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100388024","display_name":"Yi Zhang","orcid":"https://orcid.org/0000-0001-5549-7702"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yi Zhang","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033477591","display_name":"Shanshan Hu","orcid":"https://orcid.org/0000-0003-4904-0583"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shanshan Hu","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014950627","display_name":"Tingting Zhao","orcid":"https://orcid.org/0000-0002-5848-6061"},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tingting Zhao","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068012395","display_name":"Huajing Teng","orcid":"https://orcid.org/0000-0001-9952-3618"},"institutions":[{"id":"https://openalex.org/I4210098099","display_name":"Chinese Nutrition Society","ror":"https://ror.org/00yg6a139","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I4210098099"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"funder","lineage":["https://openalex.org/I19820366"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Huajing Teng","raw_affiliation_strings":["Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210098099","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100672488","display_name":"Xianfeng Li","orcid":"https://orcid.org/0000-0002-0000-8809"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"funder","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210098099","display_name":"Chinese Nutrition Society","ror":"https://ror.org/00yg6a139","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I4210098099"]},{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xianfeng Li","raw_affiliation_strings":["Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China","Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210098099","https://openalex.org/I19820366"]},{"raw_affiliation_string":"Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076498573","display_name":"Yi Jiang","orcid":"https://orcid.org/0000-0002-1196-0280"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yi Jiang","raw_affiliation_strings":["Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074391031","display_name":"Liying Ji","orcid":null},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Liying Ji","raw_affiliation_strings":["Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107972355","display_name":"Zhongsheng Sun","orcid":"https://orcid.org/0000-0003-1864-4819"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"funder","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]},{"id":"https://openalex.org/I4210098099","display_name":"Chinese Nutrition Society","ror":"https://ror.org/00yg6a139","country_code":"CN","type":"nonprofit","lineage":["https://openalex.org/I4210098099"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Zhongsheng Sun","raw_affiliation_strings":["Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China","Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210098099","https://openalex.org/I19820366"]},{"raw_affiliation_string":"Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China","institution_ids":["https://openalex.org/I27781120"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5074391031","https://openalex.org/A5107972355"],"corresponding_institution_ids":["https://openalex.org/I19820366","https://openalex.org/I27781120","https://openalex.org/I4210098099"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":13.1132,"has_fulltext":true,"cited_by_count":211,"citation_normalized_percentile":{"value":0.99024555,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"46","issue":"D1","first_page":"D1039","last_page":"D1048"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9991999864578247,"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":0.9991999864578247,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9961000084877014,"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/T10878","display_name":"CRISPR and Genetic Engineering","score":0.995199978351593,"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/biology","display_name":"Biology","score":0.7506474256515503},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6289931535720825},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5818869471549988},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5580242872238159},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.5021793842315674},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4975915253162384},{"id":"https://openalex.org/keywords/in-silico","display_name":"In silico","score":0.44343283772468567}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7506474256515503},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6289931535720825},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5818869471549988},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5580242872238159},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.5021793842315674},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4975915253162384},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.44343283772468567}],"mesh":[{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000067877","descriptor_name":"Autism Spectrum Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/nar/gkx1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkx1039","pdf_url":"https://academic.oup.com/nar/article-pdf/46/D1/D1039/23162130/gkx1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:29112736","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29112736","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"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":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:5753295","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5753295","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nar/gkx1039","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkx1039","pdf_url":"https://academic.oup.com/nar/article-pdf/46/D1/D1039/23162130/gkx1039.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G8917656316","display_name":null,"funder_award_id":"31571301","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320321133","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2767157762.pdf","grobid_xml":"https://content.openalex.org/works/W2767157762.grobid-xml"},"referenced_works_count":102,"referenced_works":["https://openalex.org/W954754213","https://openalex.org/W1713135633","https://openalex.org/W1829137581","https://openalex.org/W1976579581","https://openalex.org/W1979229570","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1989529963","https://openalex.org/W2004136968","https://openalex.org/W2007694108","https://openalex.org/W2008627757","https://openalex.org/W2011582941","https://openalex.org/W2012034410","https://openalex.org/W2013469333","https://openalex.org/W2018838463","https://openalex.org/W2029833898","https://openalex.org/W2034054625","https://openalex.org/W2038473742","https://openalex.org/W2050212230","https://openalex.org/W2051978340","https://openalex.org/W2052250375","https://openalex.org/W2059145105","https://openalex.org/W2076357933","https://openalex.org/W2078512370","https://openalex.org/W2082036307","https://openalex.org/W2086072858","https://openalex.org/W2087588809","https://openalex.org/W2089335658","https://openalex.org/W2099477841","https://openalex.org/W2100867326","https://openalex.org/W2101412130","https://openalex.org/W2104549677","https://openalex.org/W2106306904","https://openalex.org/W2108994842","https://openalex.org/W2110430166","https://openalex.org/W2111326065","https://openalex.org/W2112491890","https://openalex.org/W2114029728","https://openalex.org/W2117197109","https://openalex.org/W2121906867","https://openalex.org/W2122732537","https://openalex.org/W2127640118","https://openalex.org/W2129952088","https://openalex.org/W2143238378","https://openalex.org/W2145187337","https://openalex.org/W2145191876","https://openalex.org/W2146481951","https://openalex.org/W2146973661","https://openalex.org/W2148105023","https://openalex.org/W2150782426","https://openalex.org/W2154139219","https://openalex.org/W2155845523","https://openalex.org/W2155913747","https://openalex.org/W2160995259","https://openalex.org/W2162151166","https://openalex.org/W2162327089","https://openalex.org/W2165064122","https://openalex.org/W2168950294","https://openalex.org/W2169567789","https://openalex.org/W2172028655","https://openalex.org/W2173033037","https://openalex.org/W2173732482","https://openalex.org/W2174602966","https://openalex.org/W2194856653","https://openalex.org/W2195303995","https://openalex.org/W2200854296","https://openalex.org/W2202954603","https://openalex.org/W2225287204","https://openalex.org/W2225726427","https://openalex.org/W2256016639","https://openalex.org/W2257370818","https://openalex.org/W2284978990","https://openalex.org/W2286816102","https://openalex.org/W2320983896","https://openalex.org/W2347037915","https://openalex.org/W2396849069","https://openalex.org/W2417483443","https://openalex.org/W2464717012","https://openalex.org/W2466523221","https://openalex.org/W2511281583","https://openalex.org/W2511515754","https://openalex.org/W2521967673","https://openalex.org/W2528228681","https://openalex.org/W2535426958","https://openalex.org/W2557385283","https://openalex.org/W2557496587","https://openalex.org/W2557733467","https://openalex.org/W2557981253","https://openalex.org/W2558411436","https://openalex.org/W2558534012","https://openalex.org/W2558715006","https://openalex.org/W2559028527","https://openalex.org/W2559861862","https://openalex.org/W2580887223","https://openalex.org/W2604078450","https://openalex.org/W2604808360","https://openalex.org/W2607136729","https://openalex.org/W2738029341","https://openalex.org/W2949181286","https://openalex.org/W4210659358","https://openalex.org/W4239818044","https://openalex.org/W4255659575"],"related_works":["https://openalex.org/W2987420353","https://openalex.org/W2003194288","https://openalex.org/W2513589746","https://openalex.org/W1491897707","https://openalex.org/W2213189664","https://openalex.org/W2153919606","https://openalex.org/W2113024639","https://openalex.org/W2062254828","https://openalex.org/W4237480606","https://openalex.org/W2936968863"],"abstract_inverted_index":{"A":[0],"growing":[1],"number":[2],"of":[3,14,53,125,173,188],"genomic":[4,15,101],"tools":[5,23],"and":[6,40,51,59,75,80,118,122,151,159,197],"databases":[7],"were":[8],"developed":[9],"to":[10,42,94,104,193],"facilitate":[11],"the":[12,44,120,129],"interpretation":[13,172],"variants,":[16,127],"particularly":[17],"in":[18,27,140,146,171,177],"coding":[19,57],"regions.":[20],"However,":[21],"these":[22,90],"are":[24],"separately":[25],"available":[26],"different":[28,139,147],"online":[29],"websites":[30],"or":[31],"databases,":[32],"making":[33],"it":[34],"challenging":[35],"for":[36,191],"general":[37,155],"clinicians,":[38],"geneticists":[39],"biologists":[41],"obtain":[43],"first-hand":[45],"information":[46,190],"regarding":[47],"some":[48],"particular":[49],"variants":[50,69,91],"genes":[52],"interest.":[54],"Starting":[55],"with":[56,92],"regions":[58],"splice":[60],"sties,":[61],"we":[62,167],"artificially":[63],"generated":[64],"all":[65,77],"possible":[66],"single":[67],"nucleotide":[68],"(n":[70,82],"=":[71,83],"110":[72],"154":[73],"363)":[74],"cataloged":[76],"reported":[78],"insertion":[79],"deletions":[81],"1":[84],"223":[85],"370).":[86],"We":[87],"then":[88],"annotated":[89],"respect":[93],"functional":[95,133,136],"consequences":[96,137],"from":[97],"more":[98],"than":[99],"60":[100],"data":[102],"sources":[103],"develop":[105],"a":[106,164],"database,":[107],"named":[108],"VarCards":[109,170,183],"(http://varcards.biols.ac.cn/),":[110],"by":[111],"which":[112],"users":[113],"can":[114],"conveniently":[115],"search,":[116],"browse":[117],"annotate":[119],"variant-":[121],"gene-level":[123,157],"implications":[124],"given":[126],"including":[128],"following":[130],"information:":[131],"(i)":[132],"effects;":[134],"(ii)":[135],"through":[138],"silico":[141],"algorithms;":[142],"(iii)":[143],"allele":[144],"frequencies":[145],"populations;":[148],"(iv)":[149],"disease-":[150],"phenotype-related":[152],"knowledge;":[153],"(v)":[154],"meaningful":[156],"information;":[158],"(vi)":[160],"drug-gene":[161],"interactions.":[162],"As":[163],"case":[165],"study,":[166],"successfully":[168],"employed":[169],"de":[174],"novo":[175],"mutations":[176],"autism":[178],"spectrum":[179],"disorders.":[180],"In":[181],"conclusion,":[182],"provides":[184],"an":[185],"intuitive":[186],"interface":[187],"necessary":[189],"researchers":[192],"prioritize":[194],"candidate":[195],"variations":[196],"genes.":[198]},"counts_by_year":[{"year":2026,"cited_by_count":9},{"year":2025,"cited_by_count":19},{"year":2024,"cited_by_count":14},{"year":2023,"cited_by_count":40},{"year":2022,"cited_by_count":32},{"year":2021,"cited_by_count":37},{"year":2020,"cited_by_count":31},{"year":2019,"cited_by_count":18},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":1}],"updated_date":"2026-05-05T08:41:31.759640","created_date":"2025-10-10T00:00:00"}