{"id":"https://openalex.org/W4282940564","doi":"https://doi.org/10.1093/nar/gkac418","title":"Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation","display_name":"Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation","publication_year":2022,"publication_date":"2022-05-10","ids":{"openalex":"https://openalex.org/W4282940564","doi":"https://doi.org/10.1093/nar/gkac418","pmid":"https://pubmed.ncbi.nlm.nih.gov/35640593"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkac418","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac418","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","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://doi.org/10.1093/nar/gkac418","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100380642","display_name":"Zhu Liu","orcid":"https://orcid.org/0000-0003-4073-7237"},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhu Liu","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020250178","display_name":"Tremayne Mushayahama","orcid":null},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tremayne Mushayahama","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008612949","display_name":"Bryan Queme","orcid":"https://orcid.org/0000-0003-1509-9982"},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bryan Queme","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060371105","display_name":"Dustin Ebert","orcid":null},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dustin Ebert","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005316199","display_name":"Anushya Muruganujan","orcid":null},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anushya Muruganujan","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102886706","display_name":"Caitlin Mills","orcid":"https://orcid.org/0000-0001-6463-3737"},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Caitlin Mills","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016853551","display_name":"Paul D. Thomas","orcid":"https://orcid.org/0000-0002-9074-3507"},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul\u00a0D Thomas","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5060575386","display_name":"Huaiyu Mi","orcid":"https://orcid.org/0000-0001-8721-202X"},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Huaiyu Mi","raw_affiliation_strings":["Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA"],"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California , Los Angeles , CA 90089, USA","institution_ids":["https://openalex.org/I1174212"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5060575386"],"corresponding_institution_ids":["https://openalex.org/I1174212"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":0.6076,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.63949072,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"50","issue":"W1","first_page":"W57","last_page":"W65"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","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/T10887","display_name":"Bioinformatics and Genomic Networks","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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9973999857902527,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9973999857902527,"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/annotation","display_name":"Annotation","score":0.8988909125328064},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6501855850219727},{"id":"https://openalex.org/keywords/scripting-language","display_name":"Scripting language","score":0.6353618502616882},{"id":"https://openalex.org/keywords/interface","display_name":"Interface (matter)","score":0.6100726127624512},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.5462436676025391},{"id":"https://openalex.org/keywords/user-interface","display_name":"User interface","score":0.4927399456501007},{"id":"https://openalex.org/keywords/ontology","display_name":"Ontology","score":0.47246694564819336},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.43284308910369873},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.10346588492393494},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.09719899296760559}],"concepts":[{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.8988909125328064},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6501855850219727},{"id":"https://openalex.org/C61423126","wikidata":"https://www.wikidata.org/wiki/Q187432","display_name":"Scripting language","level":2,"score":0.6353618502616882},{"id":"https://openalex.org/C113843644","wikidata":"https://www.wikidata.org/wiki/Q901882","display_name":"Interface (matter)","level":4,"score":0.6100726127624512},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.5462436676025391},{"id":"https://openalex.org/C89505385","wikidata":"https://www.wikidata.org/wiki/Q47146","display_name":"User interface","level":2,"score":0.4927399456501007},{"id":"https://openalex.org/C25810664","wikidata":"https://www.wikidata.org/wiki/Q44325","display_name":"Ontology","level":2,"score":0.47246694564819336},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.43284308910369873},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.10346588492393494},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.09719899296760559},{"id":"https://openalex.org/C157915830","wikidata":"https://www.wikidata.org/wiki/Q2928001","display_name":"Bubble","level":2,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C129307140","wikidata":"https://www.wikidata.org/wiki/Q6795880","display_name":"Maximum bubble pressure method","level":3,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C173608175","wikidata":"https://www.wikidata.org/wiki/Q232661","display_name":"Parallel computing","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011381","descriptor_name":"Programming Languages","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":"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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/nar/gkac418","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac418","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:35640593","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35640593","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:9252745","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9252745","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","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/gkac418","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac418","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5600000023841858,"id":"https://metadata.un.org/sdg/4","display_name":"Quality Education"}],"awards":[{"id":"https://openalex.org/G1318771260","display_name":null,"funder_award_id":"P01CA196569","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W74841586","https://openalex.org/W1984068087","https://openalex.org/W2046247026","https://openalex.org/W2098425296","https://openalex.org/W2104549677","https://openalex.org/W2106578986","https://openalex.org/W2117197109","https://openalex.org/W2145809383","https://openalex.org/W2195303995","https://openalex.org/W2259938310","https://openalex.org/W2286816102","https://openalex.org/W2347037915","https://openalex.org/W2417483443","https://openalex.org/W2521967673","https://openalex.org/W2613307380","https://openalex.org/W2898789672","https://openalex.org/W2900044275","https://openalex.org/W2950458545","https://openalex.org/W2990435446","https://openalex.org/W2999574254","https://openalex.org/W3029661147","https://openalex.org/W3105910321","https://openalex.org/W3107322429","https://openalex.org/W3110917833","https://openalex.org/W3111250235","https://openalex.org/W3112600195","https://openalex.org/W3136918052","https://openalex.org/W3191451220","https://openalex.org/W3211402536","https://openalex.org/W4220920955","https://openalex.org/W6813094581"],"related_works":["https://openalex.org/W2361861616","https://openalex.org/W2263699433","https://openalex.org/W2377979023","https://openalex.org/W2218034408","https://openalex.org/W2392921965","https://openalex.org/W2358755282","https://openalex.org/W2046765700","https://openalex.org/W2625833328","https://openalex.org/W1649706580","https://openalex.org/W3195608031"],"abstract_inverted_index":{"The":[0,18,55],"Annotation":[1],"Query":[2],"(AnnoQ)":[3],"(http://annoq.org/)":[4],"is":[5,20],"designed":[6],"to":[7,47,63,72,95,133,153],"provide":[8],"comprehensive":[9],"and":[10,44,51,102,109,124,135,170],"up-to-date":[11,78],"functional":[12,45,79],"annotations":[13,41,46,80],"for":[14,114,131,141,151],"human":[15,29],"genetic":[16],"variants.":[17],"system":[19],"supported":[21],"by":[22,42],"an":[23,59,129,174],"annotation":[24,156,176],"database":[25,56],"with":[26,38,75,116,164],"\u223c39":[27],"million":[28],"variants":[30,101],"from":[31],"the":[32,76,98,137,146,155],"Haplotype":[33],"Reference":[34],"Consortium":[35],"(HRC)":[36],"pre-annotated":[37],"sequence":[39],"feature":[40],"WGSA":[43],"Gene":[48],"Ontology":[49],"(GO)":[50],"pathways":[52],"in":[53,158],"PANTHER.":[54],"operates":[57],"on":[58],"optimized":[60],"Elasticsearch":[61],"framework":[62],"support":[64],"real-time":[65],"complex":[66],"searches.":[67],"This":[68],"implementation":[69],"enables":[70],"users":[71,94,132,152],"annotate":[73,100,136],"data":[74,138],"most":[77],"via":[81],"simple":[82],"queries":[83,157],"instead":[84],"of":[85,168],"setting":[86],"up":[87],"individual":[88],"tools.":[89],"A":[90],"web":[91],"interface":[92,108],"allows":[93],"interactively":[96],"browse":[97],"annotations,":[99],"search":[103,110],"variant":[104],"data.":[105],"Its":[106],"easy-to-use":[107],"capabilities":[111],"are":[112,149],"well-suited":[113],"scientists":[115,123],"fewer":[117],"bioinformatics":[118],"skills":[119],"such":[120,144],"as":[121,145,173],"bench":[122],"statisticians.":[125],"AnnoQ":[126,161],"also":[127],"has":[128],"API":[130],"access":[134],"programmatically.":[139],"Packages":[140],"programming":[142],"languages,":[143],"R":[147],"package,":[148],"available":[150],"embed":[154],"their":[159],"scripts.":[160],"serves":[162],"researchers":[163],"a":[165],"wide":[166],"range":[167],"backgrounds":[169],"research":[171],"interests":[172],"integrated":[175],"platform.":[177]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":2}],"updated_date":"2026-04-07T14:57:38.498316","created_date":"2025-10-10T00:00:00"}
