{"id":"https://openalex.org/W1972985969","doi":"https://doi.org/10.1093/nar/gkt1125","title":"Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies","display_name":"Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies","publication_year":2013,"publication_date":"2013-11-14","ids":{"openalex":"https://openalex.org/W1972985969","doi":"https://doi.org/10.1093/nar/gkt1125","mag":"1972985969","pmid":"https://pubmed.ncbi.nlm.nih.gov/24234438"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkt1125","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt1125","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1020/16951569/gkt1125.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":null,"license_id":null,"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/D1/D1020/16951569/gkt1125.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5009816097","display_name":"Petros Papadopoulos","orcid":"https://orcid.org/0000-0002-8342-329X"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Petros Papadopoulos","raw_affiliation_strings":["Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece, Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, GR-26504, Patras, Greece, Faculty of Medicine and Pharmacy, Human Genomic Center, University Mohammed V Souissi, 11400, Rabat, Morocco and Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-26334, Patras, Greece","RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"Department of Pharmacy, School of Health Sciences, University of Patras, GR-26504, Patras, Greece, Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, GR-26504, Patras, Greece, Faculty of Medicine and Pharmacy, Human Genomic Center, University Mohammed V Souissi, 11400, Rabat, Morocco and Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, GR-26334, Patras, Greece","institution_ids":[]},{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082485823","display_name":"Emmanouil Viennas","orcid":null},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Emmanouil Viennas","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110441795","display_name":"Vassiliki Gkantouna","orcid":"https://orcid.org/0000-0003-1612-2822"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Vassiliki Gkantouna","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029332375","display_name":"Cristiana Pavlidis","orcid":null},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Cristiana Pavlidis","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065551336","display_name":"Marina Bartsakoulia","orcid":null},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Marina Bartsakoulia","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012566100","display_name":"Zafeiria-Marina Ioannou","orcid":null},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Zafeiria-Marina Ioannou","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009050591","display_name":"Ilham Ratbi","orcid":"https://orcid.org/0000-0001-7569-739X"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Ilham Ratbi","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039225424","display_name":"Abdelaziz Sefiani","orcid":"https://orcid.org/0000-0003-1921-5215"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Abdelaziz Sefiani","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057635710","display_name":"John Tsaknakis","orcid":null},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"John Tsaknakis","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051864110","display_name":"Konstantinos Poulas","orcid":"https://orcid.org/0000-0002-5397-1543"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Konstantinos Poulas","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039150569","display_name":"Giannis Tzimas","orcid":"https://orcid.org/0000-0002-4073-7256"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Giannis Tzimas","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025869866","display_name":"George P. Patrinos","orcid":"https://orcid.org/0000-0002-0519-7776"},"institutions":[{"id":"https://openalex.org/I82951845","display_name":"RMIT University","ror":"https://ror.org/04ttjf776","country_code":"AU","type":"education","lineage":["https://openalex.org/I82951845"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"George P. Patrinos","raw_affiliation_strings":["RMIT University, Melbourne, Australia"],"affiliations":[{"raw_affiliation_string":"RMIT University, Melbourne, Australia","institution_ids":["https://openalex.org/I82951845"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5009816097"],"corresponding_institution_ids":["https://openalex.org/I82951845"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":6.1604,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.96685556,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"42","issue":"D1","first_page":"D1020","last_page":"D1026"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.998199999332428,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.998199999332428,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9976999759674072,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9745000004768372,"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/biology","display_name":"Biology","score":0.6685128211975098},{"id":"https://openalex.org/keywords/visualization","display_name":"Visualization","score":0.5629758238792419},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.5211989283561707},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5093008279800415},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"Allele frequency","score":0.48209765553474426},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.43370598554611206},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.33843812346458435},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.2933003008365631},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.22184422612190247},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.21650081872940063},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.16803553700447083}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6685128211975098},{"id":"https://openalex.org/C36464697","wikidata":"https://www.wikidata.org/wiki/Q451553","display_name":"Visualization","level":2,"score":0.5629758238792419},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.5211989283561707},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5093008279800415},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.48209765553474426},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.43370598554611206},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.33843812346458435},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2933003008365631},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22184422612190247},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.21650081872940063},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16803553700447083},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","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":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010597","descriptor_name":"Pharmacogenetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010597","descriptor_name":"Pharmacogenetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010597","descriptor_name":"Pharmacogenetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":4,"locations":[{"id":"doi:10.1093/nar/gkt1125","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt1125","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1020/16951569/gkt1125.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:24234438","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24234438","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:eprints.mdx.ac.uk:29717","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306400025","display_name":"Middlesex University Research Repository (Middlesex University Of London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I60488453","host_organization_name":"Middlesex University","host_organization_lineage":["https://openalex.org/I60488453"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:europepmc.org:2943114","is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3964978","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nar/gkt1125","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkt1125","pdf_url":"https://academic.oup.com/nar/article-pdf/42/D1/D1020/16951569/gkt1125.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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1972985969.pdf","grobid_xml":"https://content.openalex.org/works/W1972985969.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W656836606","https://openalex.org/W1569649532","https://openalex.org/W1996475229","https://openalex.org/W2023119033","https://openalex.org/W2036088787","https://openalex.org/W2051878164","https://openalex.org/W2054021307","https://openalex.org/W2056467903","https://openalex.org/W2069623144","https://openalex.org/W2103879666","https://openalex.org/W2122484762","https://openalex.org/W2140959171","https://openalex.org/W2144325013","https://openalex.org/W2148561248","https://openalex.org/W2158116492","https://openalex.org/W2158384294","https://openalex.org/W2163348221","https://openalex.org/W2163512324","https://openalex.org/W6633921203"],"related_works":["https://openalex.org/W2068608913","https://openalex.org/W2124736181","https://openalex.org/W2019587571","https://openalex.org/W59372684","https://openalex.org/W2350696645","https://openalex.org/W2348342388","https://openalex.org/W3140051735","https://openalex.org/W2098867544","https://openalex.org/W2085477059","https://openalex.org/W1990385708"],"abstract_inverted_index":{"FINDbase":[0,114],"(http://www.findbase.org)":[1],"aims":[2],"to":[3,39,59,70],"document":[4],"frequencies":[5],"of":[6,147,154],"clinically":[7],"relevant":[8],"genomic":[9],"variations,":[10],"namely":[11],"causative":[12],"mutations":[13],"and":[14,32,43,73,81,103,150],"pharmacogenomic":[15],"markers,":[16],"worldwide.":[17],"Each":[18],"database":[19],"record":[20],"includes":[21,129],"the":[22,29,33,44,60,140,143,152],"population,":[23],"ethnic":[24],"group":[25],"or":[26],"geographical":[27],"region,":[28],"disorder":[30],"name":[31],"related":[34,41,69],"gene,":[35],"accompanied":[36],"by":[37],"links":[38],"any":[40],"databases":[42],"genetic":[45,86,131,145],"variation":[46],"together":[47],"with":[48,78],"its":[49],"frequency":[50],"in":[51,57,67,165],"that":[52,99,128],"population.":[53],"Here,":[54],"we":[55,92,109],"report,":[56],"addition":[58],"regular":[61],"data":[62,71,75,96,101,157],"content":[63],"updates,":[64],"significant":[65],"developments":[66],"FINDbase,":[68],"visualization":[72,97],"querying,":[74],"submission,":[76],"interrelation":[77],"other":[79],"resources":[80],"a":[82,112,155],"new":[83,95,113],"module":[84,162],"for":[85,160],"disease":[87,132],"summaries.":[88],"In":[89],"particular,":[90],"(i)":[91],"have":[93,110],"developed":[94],"tools":[98],"facilitate":[100],"querying":[102],"comparison":[104],"among":[105],"different":[106],"populations,":[107,136],"(ii)":[108],"generated":[111],"module,":[115],"built":[116],"around":[117],"Microsoft's":[118],"PivotViewer":[119],"(http://www.getpivot.com)":[120],"software,":[121],"based":[122],"on":[123],"Microsoft":[124],"Silverlight":[125],"technology":[126],"(http://www.silverlight.net),":[127],"259":[130],"summaries":[133],"from":[134,139],"five":[135],"systematically":[137],"collected":[138],"literature":[141],"representing":[142],"documented":[144],"makeup":[146],"these":[148],"populations":[149],"(iii)":[151],"implementation":[153],"generic":[156],"submission":[158],"tool":[159],"every":[161],"currently":[163],"available":[164],"FINDbase.":[166]},"counts_by_year":[{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":5}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2025-10-10T00:00:00"}