{"id":"https://openalex.org/W2204224788","doi":"https://doi.org/10.1186/s12859-015-0861-0","title":"BigQ: a NoSQL based framework to handle genomic variants in i2b2","display_name":"BigQ: a NoSQL based framework to handle genomic variants in i2b2","publication_year":2015,"publication_date":"2015-12-01","ids":{"openalex":"https://openalex.org/W2204224788","doi":"https://doi.org/10.1186/s12859-015-0861-0","mag":"2204224788","pmid":"https://pubmed.ncbi.nlm.nih.gov/26714792"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-015-0861-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0861-0","pdf_url":"https://link.springer.com/content/pdf/10.1186/s12859-015-0861-0.pdf","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://link.springer.com/content/pdf/10.1186/s12859-015-0861-0.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060879777","display_name":"Matteo Gabetta","orcid":"https://orcid.org/0000-0001-9140-768X"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Matteo Gabetta","raw_affiliation_strings":["Biomeris s.r.l., Pavia, Italy. matteo.gabetta@unipv.it","Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. matteo.gabetta@unipv.it","Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomeris s.r.l., Pavia, Italy. matteo.gabetta@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. matteo.gabetta@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076899663","display_name":"Ivan Limongelli","orcid":"https://orcid.org/0000-0002-9781-2974"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I4210151645","display_name":"Policlinico San Matteo Fondazione","ror":"https://ror.org/05w1q1c88","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210151645","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Ivan Limongelli","raw_affiliation_strings":["Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. ivan.limongelli@unipv.it","IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy. ivan.limongelli@unipv.it","Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. ivan.limongelli@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy. ivan.limongelli@unipv.it","institution_ids":["https://openalex.org/I4210151645"]},{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046319461","display_name":"Ettore Rizzo","orcid":"https://orcid.org/0000-0003-1631-9000"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ettore Rizzo","raw_affiliation_strings":["Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. ettore.rizzo@unipv.it","Dipartimento di Medicina Molecolare, Universit\u00e0 di Pavia, Pavia, Italy. ettore.rizzo@unipv.it","Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. ettore.rizzo@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Dipartimento di Medicina Molecolare, Universit\u00e0 di Pavia, Pavia, Italy. ettore.rizzo@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy","institution_ids":["https://openalex.org/I25217355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012026856","display_name":"Alberto Riva","orcid":"https://orcid.org/0000-0001-9150-8333"},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alberto Riva","raw_affiliation_strings":["Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA. ariva@ufl.edu","Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA. ariva@ufl.edu","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038921121","display_name":"Daniele Segagni","orcid":null},"institutions":[{"id":"https://openalex.org/I4210105320","display_name":"Fondazione Salvatore Maugeri","ror":"https://ror.org/01e8tvg28","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210105320","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Daniele Segagni","raw_affiliation_strings":["IRCCS Fondazione S. Maugeri, Pavia, Italy. daniele.segagni@fsm.it","IRCCS Fondazione S. Maugeri, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Fondazione S. Maugeri, Pavia, Italy. daniele.segagni@fsm.it","institution_ids":["https://openalex.org/I4210105320"]},{"raw_affiliation_string":"IRCCS Fondazione S. Maugeri, Pavia, Italy","institution_ids":["https://openalex.org/I4210105320"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050932220","display_name":"Riccardo Bellazzi","orcid":"https://orcid.org/0000-0002-6974-9808"},"institutions":[{"id":"https://openalex.org/I25217355","display_name":"University of Pavia","ror":"https://ror.org/00s6t1f81","country_code":"IT","type":"education","lineage":["https://openalex.org/I25217355"]},{"id":"https://openalex.org/I4210105320","display_name":"Fondazione Salvatore Maugeri","ror":"https://ror.org/01e8tvg28","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210105320","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Riccardo Bellazzi","raw_affiliation_strings":["Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. riccardo.bellazzi@unipv.it","IRCCS Fondazione S. Maugeri, Pavia, Italy. riccardo.bellazzi@unipv.it","IRCCS Fondazione S. Maugeri, Pavia, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Universit\u00e0 di Pavia, Pavia, Italy. riccardo.bellazzi@unipv.it","institution_ids":["https://openalex.org/I25217355"]},{"raw_affiliation_string":"IRCCS Fondazione S. Maugeri, Pavia, Italy. riccardo.bellazzi@unipv.it","institution_ids":["https://openalex.org/I4210105320"]},{"raw_affiliation_string":"IRCCS Fondazione S. Maugeri, Pavia, Italy","institution_ids":["https://openalex.org/I4210105320"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5076899663"],"corresponding_institution_ids":["https://openalex.org/I25217355","https://openalex.org/I4210151645"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":2.2503,"has_fulltext":true,"cited_by_count":26,"citation_normalized_percentile":{"value":0.88896783,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"16","issue":"1","first_page":"415","last_page":"415"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8432999849319458,"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":0.8432999849319458,"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/T10350","display_name":"Electronic Health Records Systems","score":0.06859999895095825,"subfield":{"id":"https://openalex.org/subfields/3605","display_name":"Health Information Management"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.02319999970495701,"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/nosql","display_name":"NoSQL","score":0.8007686734199524},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5725134015083313},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4583212435245514},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4545147120952606},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.42064327001571655},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.4170862138271332},{"id":"https://openalex.org/keywords/big-data","display_name":"Big data","score":0.22858300805091858},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.17210590839385986},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.1492319405078888},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.1077033281326294}],"concepts":[{"id":"https://openalex.org/C2779599972","wikidata":"https://www.wikidata.org/wiki/Q82231","display_name":"NoSQL","level":3,"score":0.8007686734199524},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5725134015083313},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4583212435245514},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4545147120952606},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42064327001571655},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.4170862138271332},{"id":"https://openalex.org/C75684735","wikidata":"https://www.wikidata.org/wiki/Q858810","display_name":"Big data","level":2,"score":0.22858300805091858},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17210590839385986},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.1492319405078888},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.1077033281326294}],"mesh":[{"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":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","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":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1186/s12859-015-0861-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0861-0","pdf_url":"https://link.springer.com/content/pdf/10.1186/s12859-015-0861-0.pdf","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26714792","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26714792","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:UFDC:AA00053564_00001","is_oa":true,"landing_page_url":"http://ufdc.ufl.edu/AA00053564/00001","pdf_url":null,"source":{"id":"https://openalex.org/S4306400471","display_name":"University of Florida Digital Collections (University of Florida)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I33213144","host_organization_name":"University of Florida","host_organization_lineage":["https://openalex.org/I33213144"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"mixed material"},{"id":"pmh:oai:europepmc.org:3665915","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4696314","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/s12859-015-0861-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-015-0861-0","pdf_url":"https://link.springer.com/content/pdf/10.1186/s12859-015-0861-0.pdf","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321499","display_name":"Fondazione Cariplo","ror":"https://ror.org/01gb56c55"},{"id":"https://openalex.org/F4320326078","display_name":"Regione Lombardia","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2204224788.pdf","grobid_xml":"https://content.openalex.org/works/W2204224788.grobid-xml"},"referenced_works_count":40,"referenced_works":["https://openalex.org/W202860122","https://openalex.org/W1494567425","https://openalex.org/W1563940013","https://openalex.org/W1594279064","https://openalex.org/W1752064231","https://openalex.org/W1966764836","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1986700282","https://openalex.org/W2004136968","https://openalex.org/W2017653822","https://openalex.org/W2021341670","https://openalex.org/W2026657534","https://openalex.org/W2042113691","https://openalex.org/W2042313694","https://openalex.org/W2060427373","https://openalex.org/W2067072887","https://openalex.org/W2072148510","https://openalex.org/W2086072858","https://openalex.org/W2096791516","https://openalex.org/W2098195118","https://openalex.org/W2100428244","https://openalex.org/W2104570606","https://openalex.org/W2104582152","https://openalex.org/W2104608657","https://openalex.org/W2105071916","https://openalex.org/W2106578986","https://openalex.org/W2107133912","https://openalex.org/W2108871359","https://openalex.org/W2113534011","https://openalex.org/W2119412782","https://openalex.org/W2142386149","https://openalex.org/W2144320400","https://openalex.org/W2147686393","https://openalex.org/W2149992227","https://openalex.org/W2157164548","https://openalex.org/W2162327089","https://openalex.org/W2168440186","https://openalex.org/W2170726912","https://openalex.org/W4229794866"],"related_works":["https://openalex.org/W2799973158","https://openalex.org/W2419153746","https://openalex.org/W2923327995","https://openalex.org/W3089119258","https://openalex.org/W2518340158","https://openalex.org/W349054995","https://openalex.org/W2086537700","https://openalex.org/W2997849137","https://openalex.org/W4246713129","https://openalex.org/W2894210277"],"abstract_inverted_index":{"BACKGROUND:":[0],"Precision":[1],"medicine":[2,76],"requires":[3],"the":[4,26,52,72,105,132,149,163,177,227],"tight":[5],"integration":[6],"of":[7,29,74,93,104,148,152,170,179,193,203,207,231],"clinical":[8,64,111,218],"and":[9,41,51,173,196,206,219,234],"molecular":[10],"data.":[11,82,97,221],"To":[12],"this":[13,183],"end,":[14],"it":[15],"is":[16],"mandatory":[17],"to":[18,24,35,61,131,213,238],"define":[19],"proper":[20],"technological":[21],"solutions":[22,92],"able":[23],"manage":[25],"overwhelming":[27],"amount":[28],"high":[30],"throughput":[31],"genomic":[32,39,114,141,204,232,241],"data":[33,65],"needed":[34],"test":[36],"associations":[37],"between":[38],"signatures":[40],"human":[42],"phenotypes.":[43],"The":[44,222],"i2b2":[45,83,106,125,189],"Center":[46],"(Informatics":[47],"for":[48,66],"Integrating":[49],"Biology":[50],"Bedside)":[53],"has":[54],"developed":[55,100],"a":[56,135,187,208],"widely":[57],"internationally":[58],"adopted":[59],"framework":[60],"use":[62],"existing":[63],"discovery":[67],"research":[68],"that":[69,162,200],"can":[70,84,235],"help":[71],"definition":[73],"precision":[75],"interventions":[77],"when":[78],"coupled":[79],"with":[80,113,176],"genetic":[81,220],"be":[85,236],"significantly":[86],"advanced":[87],"by":[88,118,137],"designing":[89],"efficient":[90,195],"management":[91],"Next":[94,119],"Generation":[95,120],"Sequencing":[96],"RESULTS:":[98],"We":[99,144],"BigQ,":[101],"an":[102,146,194],"extension":[103],"framework,":[107],"which":[108],"integrates":[109],"patient":[110],"phenotypes":[112],"variant":[115,142],"profiles":[116],"generated":[117],"Sequencing.":[121],"A":[122],"visual":[123,209],"programming":[124,210],"plugin":[126],"allows":[127,225],"retrieving":[128],"variants":[129,205,233],"belonging":[130],"patients":[133],"in":[134,168],"cohort":[136],"applying":[138],"filters":[139],"on":[140,155,217],"annotations.":[143,242],"report":[145],"evaluation":[147],"query":[150,171],"performance":[151],"our":[153],"system":[154,223],"more":[156],"than":[157],"11":[158],"million":[159],"variants,":[160],"showing":[161],"implemented":[164],"solution":[165],"scales":[166],"linearly":[167],"terms":[169],"time":[172],"disk":[174],"space":[175],"number":[178],"variants.":[180],"CONCLUSIONS:":[181],"In":[182],"paper":[184],"we":[185],"describe":[186],"new":[188],"web":[190],"service":[191],"composed":[192],"scalable":[197],"document-based":[198],"database":[199],"manages":[201],"annotations":[202],"plug-in":[211],"designed":[212],"dynamically":[214],"perform":[215],"queries":[216],"therefore":[224],"managing":[226],"fast":[228],"growing":[229],"volume":[230],"used":[237],"integrate":[239],"heterogeneous":[240]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":6}],"updated_date":"2026-07-23T08:03:31.855105","created_date":"2025-10-10T00:00:00"}
