{"id":"https://openalex.org/W2773152087","doi":"https://doi.org/10.1186/s12859-017-1951-y","title":"Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations","display_name":"Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations","publication_year":2017,"publication_date":"2017-12-01","ids":{"openalex":"https://openalex.org/W2773152087","doi":"https://doi.org/10.1186/s12859-017-1951-y","mag":"2773152087","pmid":"https://pubmed.ncbi.nlm.nih.gov/29191167"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-017-1951-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1951-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1951-y","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://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1951-y","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027172579","display_name":"Bart J. G. Broeckx","orcid":"https://orcid.org/0000-0001-6742-3911"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Bart J. G. Broeckx","raw_affiliation_strings":["Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium. bart.broeckx@ugent.be","Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium"],"raw_orcid":"https://orcid.org/0000-0001-6742-3911","affiliations":[{"raw_affiliation_string":"Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium. bart.broeckx@ugent.be","institution_ids":["https://openalex.org/I32597200"]},{"raw_affiliation_string":"Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020715943","display_name":"Luc Peelman","orcid":"https://orcid.org/0000-0003-3853-5310"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Luc Peelman","raw_affiliation_strings":["Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, B-9820, Merelbeke, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045890136","display_name":"Jimmy Saunders","orcid":"https://orcid.org/0000-0001-7720-3023"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Jimmy H. Saunders","raw_affiliation_strings":["Department of Medical Imaging and Orthopedics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Imaging and Orthopedics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047878026","display_name":"Dieter Deforce","orcid":"https://orcid.org/0000-0002-0635-661X"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Dieter Deforce","raw_affiliation_strings":["Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088783585","display_name":"Lieven Clement","orcid":"https://orcid.org/0000-0002-9050-4370"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Lieven Clement","raw_affiliation_strings":["Department of Applied Mathematics, Computer Science and Statistics, Faculty of Sciences, Ghent University, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Applied Mathematics, Computer Science and Statistics, Faculty of Sciences, Ghent University, Ghent, Belgium","institution_ids":["https://openalex.org/I32597200"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.6557,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.76796203,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"18","issue":"1","first_page":"535","last_page":"535"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9168000221252441,"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":0.9168000221252441,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.06360000371932983,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.005200000014156103,"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/genotype","display_name":"Genotype","score":0.662533164024353},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.6614726185798645},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.632359504699707},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.5654937028884888},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.535774290561676},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4863782227039337},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4606696367263794},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.42179161310195923},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.30554836988449097},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1948333978652954},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.07972002029418945},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.07372531294822693}],"concepts":[{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.662533164024353},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.6614726185798645},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.632359504699707},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.5654937028884888},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.535774290561676},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4863782227039337},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4606696367263794},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.42179161310195923},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.30554836988449097},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1948333978652954},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.07972002029418945},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.07372531294822693},{"id":"https://openalex.org/C539667460","wikidata":"https://www.wikidata.org/wiki/Q2414942","display_name":"Management science","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","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":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12859-017-1951-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1951-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1951-y","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:29191167","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29191167","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:archive.ugent.be:8542702","is_oa":true,"landing_page_url":"http://hdl.handle.net/1854/LU-8542702","pdf_url":null,"source":{"id":"https://openalex.org/S4306400478","display_name":"Ghent University Academic Bibliography (Ghent University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I32597200","host_organization_name":"Ghent University","host_organization_lineage":["https://openalex.org/I32597200"],"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":"ISSN: 1471-2105","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:doaj.org/article:8a643cf1f73545c8a803ecfe88746328","is_oa":true,"landing_page_url":"https://doaj.org/article/8a643cf1f73545c8a803ecfe88746328","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 18, Iss 1, Pp 1-10 (2017)","raw_type":"article"},{"id":"pmh:oai:europepmc.org:4631458","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5710091","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/s12859-017-1951-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1951-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1951-y","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":[{"display_name":"Partnerships for the goals","score":0.5299999713897705,"id":"https://metadata.un.org/sdg/17"}],"awards":[{"id":"https://openalex.org/G3425626203","display_name":null,"funder_award_id":"12G9217N","funder_id":"https://openalex.org/F4320321730","funder_display_name":"Fonds Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2773152087.pdf","grobid_xml":"https://content.openalex.org/works/W2773152087.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1584671853","https://openalex.org/W1926851645","https://openalex.org/W1951408759","https://openalex.org/W1967010300","https://openalex.org/W1967367140","https://openalex.org/W1975400798","https://openalex.org/W1980991473","https://openalex.org/W1996445143","https://openalex.org/W2036210716","https://openalex.org/W2044340012","https://openalex.org/W2044382503","https://openalex.org/W2061596350","https://openalex.org/W2071248744","https://openalex.org/W2073414655","https://openalex.org/W2074496565","https://openalex.org/W2089223423","https://openalex.org/W2089736156","https://openalex.org/W2090362914","https://openalex.org/W2092412565","https://openalex.org/W2093452101","https://openalex.org/W2099101325","https://openalex.org/W2107916366","https://openalex.org/W2108871359","https://openalex.org/W2112897062","https://openalex.org/W2122732537","https://openalex.org/W2135765512","https://openalex.org/W2143992683","https://openalex.org/W2153547731","https://openalex.org/W2160906984","https://openalex.org/W2171777347","https://openalex.org/W2174602966","https://openalex.org/W2176278116","https://openalex.org/W2217645624","https://openalex.org/W2239172345","https://openalex.org/W2320983896","https://openalex.org/W2885727518"],"related_works":["https://openalex.org/W2506292322","https://openalex.org/W4283209547","https://openalex.org/W4367627632","https://openalex.org/W653452717","https://openalex.org/W2134373856","https://openalex.org/W2554445088","https://openalex.org/W2385665726","https://openalex.org/W2347271704","https://openalex.org/W3088013537","https://openalex.org/W2621003306"],"abstract_inverted_index":{"BACKGROUND:":[0],"In":[1,290],"the":[2,19,46,50,68,79,83,117,133,146,174,178,186,196,208,218,234,250,292],"search":[3,20],"for":[4,229,287,299],"novel":[5,128,273],"causal":[6],"mutations,":[7],"public":[8],"and/or":[9],"private":[10],"variant":[11,35,47,63,97,204,230,241,288,300],"databases":[12,205,242],"are":[13,311],"nearly":[14],"always":[15],"used":[16,298],"to":[17,207,260],"facilitate":[18],"as":[21,211],"they":[22],"result":[23],"in":[24,31,62,89,116,180,203,240,263],"a":[25,214,272,283],"massive":[26],"reduction":[27],"of":[28,70,85,91,119,141,148,156,182,200,217,220,266],"putative":[29,120],"variants":[30,44,58,71,239],"one":[32],"step.":[33],"Practically,":[34],"filtering":[36],"is":[37,54,113,151,282],"often":[38],"done":[39],"by":[40,66],"either":[41],"using":[42,67],"all":[43,101,110],"from":[45,245],"database":[48,161,164,231],"(called":[49,78],"absence-approach,":[51],"i.e.":[52],"it":[53,125],"assumed":[55],"that":[56,173,277],"disease-causing":[57,96,121,201,238],"do":[59],"not":[60,99],"reside":[61],"databases)":[64],"or":[65],"subset":[69],"with":[72,126,195,249],"an":[73,127,226],"allelic":[74],"frequency":[75,143],">":[76],"1%":[77],"1%-approach).":[80],"We":[81,223,270],"investigate":[82],"validity":[84],"these":[86,149],"two":[87],"approaches":[88],"terms":[90,181],"false":[92,104,183,221],"negatives":[93],"(the":[94],"true":[95],"does":[98],"pass":[100],"filters)":[102],"and":[103,112,123,145,163,210,233,257,275,307],"positives":[105],"(a":[106],"harmless":[107],"mutation":[108],"passes":[109],"filters":[111],"erroneously":[114],"retained":[115],"list":[118],"variants)":[122],"compare":[124],"approach":[129,137,176,191,281,294],"which":[130],"we":[131,171],"named":[132],"quantile-based":[134,175,190,235,251,280,293],"approach.":[135,236],"This":[136],"applies":[138],"variable":[139,197],"instead":[140],"static":[142],"thresholds":[144,150],"calculation":[147],"based":[152],"on":[153,168],"prior":[154],"knowledge":[155],"disease":[157],"prevalence,":[158],"inheritance":[159],"models,":[160],"size":[162],"characteristics.":[165],"RESULTS:":[166],"Based":[167],"real-life":[169],"data,":[170],"demonstrate":[172],"outperforms":[177],"absence-approach":[179],"negatives.":[184],"At":[185],"same":[187],"time,":[188],"this":[189,278],"deals":[192],"more":[193],"appropriately":[194],"allele":[198],"frequencies":[199],"alleles":[202],"relative":[206],"1%-approach":[209],"such":[212],"allows":[213],"better":[215],"control":[216],"number":[219],"positives.":[222],"also":[224,296],"introduce":[225],"alternative":[227],"application":[228],"usage":[232],"If":[237],"deviate":[243],"substantially":[244],"theoretical":[246],"expectancies":[247],"calculated":[248],"approach,":[252],"their":[253],"association":[254],"between":[255],"genotype":[256],"phenotype":[258],"had":[259],"be":[261,297],"reconsidered":[262],"12":[264],"out":[265],"13":[267],"cases.":[268],"CONCLUSIONS:":[269],"developed":[271],"method":[274,286],"demonstrated":[276],"so-called":[279],"highly":[284],"suitable":[285],"filtering.":[289],"addition,":[291],"can":[295],"flagging.":[301],"For":[302],"user":[303],"friendliness,":[304],"lookup":[305],"tables":[306],"easy-to-use":[308],"R":[309],"calculators":[310],"provided.":[312]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-10T00:00:00"}
