{"id":"https://openalex.org/W2127363707","doi":"https://doi.org/10.1093/nar/gku361","title":"The personal genome browser: visualizing functions of genetic variants","display_name":"The personal genome browser: visualizing functions of genetic variants","publication_year":2014,"publication_date":"2014-05-05","ids":{"openalex":"https://openalex.org/W2127363707","doi":"https://doi.org/10.1093/nar/gku361","mag":"2127363707","pmid":"https://pubmed.ncbi.nlm.nih.gov/24799434"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gku361","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku361","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W192/17423002/gku361.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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/42/W1/W192/17423002/gku361.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056364272","display_name":"Liran Juan","orcid":"https://orcid.org/0000-0001-8826-0269"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liran Juan","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049382437","display_name":"Mingxiang Teng","orcid":"https://orcid.org/0000-0002-8536-8941"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Mingxiang Teng","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":"https://orcid.org/0000-0002-8536-8941","affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084159324","display_name":"Tianyi Zang","orcid":"https://orcid.org/0000-0003-0195-8731"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tianyi Zang","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015961107","display_name":"Yafeng Hao","orcid":"https://orcid.org/0009-0008-5868-4069"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yafeng Hao","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058599864","display_name":"Zhenxing Wang","orcid":"https://orcid.org/0000-0001-7020-5202"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhenxing Wang","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034962817","display_name":"Chengwu Yan","orcid":null},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chengwu Yan","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009730904","display_name":"Yongzhuang Liu","orcid":"https://orcid.org/0000-0002-2572-7420"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yongzhuang Liu","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066052627","display_name":"Jie Li","orcid":"https://orcid.org/0000-0001-9359-3586"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jie Li","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100671125","display_name":"Tianjiao Zhang","orcid":"https://orcid.org/0000-0001-9807-8620"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tianjiao Zhang","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100392447","display_name":"Yadong Wang","orcid":"https://orcid.org/0000-0001-6500-6217"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]},{"id":"https://openalex.org/I4210161462","display_name":"Heilongjiang Institute of Technology","ror":"https://ror.org/05x0m9n95","country_code":"CN","type":"education","lineage":["https://openalex.org/I4210161462"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yadong Wang","raw_affiliation_strings":["Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China ydwang@hit.edu.cn","Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China ydwang@hit.edu.cn","institution_ids":["https://openalex.org/I204983213","https://openalex.org/I4210161462"]},{"raw_affiliation_string":"Center for Bioinformatics, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China","institution_ids":["https://openalex.org/I204983213"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":0.698,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.70228911,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"42","issue":"W1","first_page":"W192","last_page":"W197"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9990000128746033,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9990000128746033,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9911999702453613,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9883999824523926,"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/genome","display_name":"Genome","score":0.7961921691894531},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7100515961647034},{"id":"https://openalex.org/keywords/personal-genomics","display_name":"Personal genomics","score":0.7032018899917603},{"id":"https://openalex.org/keywords/genome-browser","display_name":"Genome browser","score":0.6463337540626526},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.6069246530532837},{"id":"https://openalex.org/keywords/genome-project","display_name":"Genome project","score":0.5523048639297485},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5189206600189209},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5116425156593323},{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.5071210861206055},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.49032261967658997},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.4844515323638916},{"id":"https://openalex.org/keywords/reference-genome","display_name":"Reference genome","score":0.4834080934524536},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.45522698760032654},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4404098093509674},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.36066603660583496},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.23197540640830994},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.10469430685043335}],"concepts":[{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.7961921691894531},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7100515961647034},{"id":"https://openalex.org/C24103923","wikidata":"https://www.wikidata.org/wiki/Q7170583","display_name":"Personal genomics","level":5,"score":0.7032018899917603},{"id":"https://openalex.org/C2781148417","wikidata":"https://www.wikidata.org/wiki/Q5533486","display_name":"Genome browser","level":5,"score":0.6463337540626526},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.6069246530532837},{"id":"https://openalex.org/C89566754","wikidata":"https://www.wikidata.org/wiki/Q2273828","display_name":"Genome project","level":4,"score":0.5523048639297485},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5189206600189209},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5116425156593323},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.5071210861206055},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.49032261967658997},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.4844515323638916},{"id":"https://openalex.org/C192953774","wikidata":"https://www.wikidata.org/wiki/Q7307127","display_name":"Reference genome","level":4,"score":0.4834080934524536},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.45522698760032654},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4404098093509674},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.36066603660583496},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.23197540640830994},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.10469430685043335}],"mesh":[{"descriptor_ui":"D003196","descriptor_name":"Computer Graphics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003196","descriptor_name":"Computer Graphics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003196","descriptor_name":"Computer Graphics","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":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","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":"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":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/nar/gku361","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku361","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W192/17423002/gku361.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:24799434","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24799434","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:CiteSeerX.psu:10.1.1.782.1605","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.782.1605","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/3b/d5/gku361.PMC4086072.pdf","raw_type":"text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4086072","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4086072","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/gku361","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku361","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W192/17423002/gku361.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.4399999976158142,"id":"https://metadata.un.org/sdg/9","display_name":"Industry, innovation and infrastructure"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309018","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W1969647281","https://openalex.org/W1984068087","https://openalex.org/W2026570544","https://openalex.org/W2034424993","https://openalex.org/W2057167586","https://openalex.org/W2059145105","https://openalex.org/W2063280109","https://openalex.org/W2086072858","https://openalex.org/W2096791516","https://openalex.org/W2103184242","https://openalex.org/W2104570606","https://openalex.org/W2105114815","https://openalex.org/W2106578986","https://openalex.org/W2107133912","https://openalex.org/W2108234281","https://openalex.org/W2113368041","https://openalex.org/W2113649367","https://openalex.org/W2117131162","https://openalex.org/W2119412782","https://openalex.org/W2122732537","https://openalex.org/W2128016314","https://openalex.org/W2129785061","https://openalex.org/W2142386149","https://openalex.org/W2142642738","https://openalex.org/W2143238378","https://openalex.org/W2143387738","https://openalex.org/W2145477956","https://openalex.org/W2149992227","https://openalex.org/W2157679867","https://openalex.org/W2916083703","https://openalex.org/W4210290733"],"related_works":["https://openalex.org/W2289136766","https://openalex.org/W2297084330","https://openalex.org/W2977884694","https://openalex.org/W2952870794","https://openalex.org/W1725128978","https://openalex.org/W1984068087","https://openalex.org/W2990310116","https://openalex.org/W2127363707","https://openalex.org/W2547692304","https://openalex.org/W2070080356"],"abstract_inverted_index":{"Advances":[0],"in":[1,193],"high-throughput":[2],"sequencing":[3,25],"technologies":[4],"have":[5,20],"brought":[6],"us":[7],"into":[8],"the":[9,16,22,74,104,116,124,138,151,162,180],"individual":[10,23,38,70,81,105,134,164,187],"genome":[11,24,45,188],"era.":[12],"Projects":[13],"such":[14,84],"as":[15,85,95,97,179],"1000":[17],"Genomes":[18],"Project":[19],"led":[21],"to":[26,33,43,62,103,157],"become":[27],"more":[28,30],"and":[29,36,47,67,91,100,173,199],"popular.":[31],"How":[32],"visualize,":[34],"analyse":[35],"annotate":[37],"genomes":[39,71],"with":[40],"knowledge":[41],"bases":[42],"support":[44],"studies":[46],"personalized":[48],"healthcare":[49],"is":[50,60,203],"still":[51],"a":[52,141,144],"big":[53],"challenge.":[54],"The":[55,108,166,182,201],"Personal":[56],"Genome":[57],"Browser":[58],"(PGB)":[59],"developed":[61],"provide":[63],"comprehensive":[64],"functional":[65,113,125,148,183],"annotation":[66,184],"visualization":[68],"for":[69],"based":[72,146],"on":[73,137,147,161],"genetic-molecular-phenotypic":[75],"model.":[76],"Investigators":[77,153],"can":[78,154,190],"easily":[79],"view":[80],"genetic":[82,106,135],"variants,":[83],"single":[86],"nucleotide":[87],"variants":[88,114,136,189],"(SNVs),":[89],"INDELs":[90],"structural":[92],"variations":[93],"(SVs),":[94],"well":[96],"genomic":[98],"features":[99],"phenotypes":[101],"associated":[102],"variants.":[107,152],"PGB":[109,117,167,202],"especially":[110],"highlights":[111],"potential":[112],"using":[115],"built-in":[118],"method":[119],"or":[120,143],"SIFT/PolyPhen2":[121],"scores.":[122],"Moreover,":[123],"risks":[126],"of":[127,150,185],"genes":[128,160],"could":[129],"be":[130,191],"evaluated":[131],"by":[132,196],"scanning":[133],"whole":[139],"genome,":[140],"chromosome,":[142],"cytoband":[145],"implications":[149],"then":[155],"navigate":[156],"high":[158],"risk":[159],"scanned":[163],"genome.":[165],"accepts":[168],"Variant":[169],"Call":[170],"Format":[171,176],"(VCF)":[172],"Genetic":[174],"Variation":[175],"(GVF)":[177],"files":[178],"input.":[181],"input":[186],"visualized":[192],"real":[194],"time":[195],"well-defined":[197],"symbols":[198],"shapes.":[200],"available":[204],"at":[205],"http://www.pgbrowser.org/.":[206]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4}],"updated_date":"2026-05-19T21:40:30.786675","created_date":"2025-10-10T00:00:00"}