{"id":"https://openalex.org/W2808968362","doi":"https://doi.org/10.1093/bioinformatics/bty806","title":"Combining count- and length-based <i>z</i>-scores leads to improved predictions in non-invasive prenatal testing","display_name":"Combining count- and length-based <i>z</i>-scores leads to improved predictions in non-invasive prenatal testing","publication_year":2018,"publication_date":"2018-09-13","ids":{"openalex":"https://openalex.org/W2808968362","doi":"https://doi.org/10.1093/bioinformatics/bty806","mag":"2808968362","pmid":"https://pubmed.ncbi.nlm.nih.gov/30219853"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bty806","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty806","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"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":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["arxiv","crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://arxiv.org/pdf/1806.08552","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003521595","display_name":"Jaroslav Budi\u0161","orcid":"https://orcid.org/0000-0002-8667-6655"},"institutions":[{"id":"https://openalex.org/I4210156920","display_name":"Slovak Centre of Scientific and Technical Information","ror":"https://ror.org/054ys1f07","country_code":"SK","type":"archive","lineage":["https://openalex.org/I4210156920"]},{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]},{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Jaroslav Budis","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Department of Computer Science, Faculty of Mathematics, Physics and Informatics, Comenius University, Bratislava, Slovakia","Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Department of Computer Science, Faculty of Mathematics, Physics and Informatics, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]},{"raw_affiliation_string":"Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210156920"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047760740","display_name":"Juraj Gazdarica","orcid":"https://orcid.org/0000-0002-9042-3589"},"institutions":[{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]},{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Juraj Gazdarica","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041577194","display_name":"J\u00e1n Radv\u00e1nszky","orcid":"https://orcid.org/0000-0001-9657-1198"},"institutions":[{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]},{"id":"https://openalex.org/I4210123996","display_name":"Biomedical Research Center of the Slovak Academy of Sciences","ror":"https://ror.org/02s3ds748","country_code":"SK","type":"facility","lineage":["https://openalex.org/I207624831","https://openalex.org/I4210123996"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Jan Radvanszky","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210123996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103188100","display_name":"G\u00e1bor Sz\u0171cs","orcid":"https://orcid.org/0000-0003-3211-9690"},"institutions":[{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Gabor Szucs","raw_affiliation_strings":["Department of Applied Mathematics and Statistics, Faculty of Mathematics, Physics and Informatics, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Department of Applied Mathematics and Statistics, Faculty of Mathematics, Physics and Informatics, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017850074","display_name":"Marcel Kuchar\u00edk","orcid":"https://orcid.org/0000-0002-5373-8282"},"institutions":[{"id":"https://openalex.org/I4210159089","display_name":"Medirex Group Academy","ror":"https://ror.org/04z5nag80","country_code":"SK","type":"nonprofit","lineage":["https://openalex.org/I4210159089"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Marcel Kucharik","raw_affiliation_strings":["Medirex a.s, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Medirex a.s, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210159089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057110161","display_name":"Lucia Strie\u0161kov\u00e1","orcid":null},"institutions":[{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]},{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Lucia Strieskova","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008639468","display_name":"Iveta Gazdaricova","orcid":null},"institutions":[{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Iveta Gazdaricova","raw_affiliation_strings":["Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084850418","display_name":"M\u00e1ria Har\u0161\u00e1nyov\u00e1","orcid":null},"institutions":[{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]},{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Maria Harsanyova","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040960738","display_name":"Franti\u0161ek \u010euri\u0161","orcid":"https://orcid.org/0000-0001-8985-4122"},"institutions":[{"id":"https://openalex.org/I4210156920","display_name":"Slovak Centre of Scientific and Technical Information","ror":"https://ror.org/054ys1f07","country_code":"SK","type":"archive","lineage":["https://openalex.org/I4210156920"]},{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]}],"countries":["SK"],"is_corresponding":true,"raw_author_name":"Frantisek Duris","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210156920"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065094477","display_name":"Gabriel Min\u00e1rik","orcid":"https://orcid.org/0000-0001-9399-2202"},"institutions":[{"id":"https://openalex.org/I4210159089","display_name":"Medirex Group Academy","ror":"https://ror.org/04z5nag80","country_code":"SK","type":"nonprofit","lineage":["https://openalex.org/I4210159089"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Gabriel Minarik","raw_affiliation_strings":["Medirex a.s, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Medirex a.s, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210159089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027044409","display_name":"Martina Sekelsk\u00e1","orcid":null},"institutions":[{"id":"https://openalex.org/I4210159089","display_name":"Medirex Group Academy","ror":"https://ror.org/04z5nag80","country_code":"SK","type":"nonprofit","lineage":["https://openalex.org/I4210159089"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Martina Sekelska","raw_affiliation_strings":["Medirex a.s, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Medirex a.s, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210159089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003656407","display_name":"B\u00e1lint Nagy","orcid":"https://orcid.org/0000-0002-0295-185X"},"institutions":[{"id":"https://openalex.org/I132735039","display_name":"University of Debrecen","ror":"https://ror.org/02xf66n48","country_code":"HU","type":"education","lineage":["https://openalex.org/I132735039"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"Balint Nagy","raw_affiliation_strings":["Department of Human Genetics, University of Debrecen, Debrecen, Hungary"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Debrecen, Debrecen, Hungary","institution_ids":["https://openalex.org/I132735039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063713045","display_name":"J\u00e1n Tur\u0148a","orcid":"https://orcid.org/0000-0001-5813-566X"},"institutions":[{"id":"https://openalex.org/I4210156920","display_name":"Slovak Centre of Scientific and Technical Information","ror":"https://ror.org/054ys1f07","country_code":"SK","type":"archive","lineage":["https://openalex.org/I4210156920"]},{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Jan Turna","raw_affiliation_strings":["Comenius University Science Park, Bratislava, Slovakia","Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Comenius University Science Park, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]},{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]},{"raw_affiliation_string":"Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210156920"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085593232","display_name":"Tom\u00e1\u0161 Szemes","orcid":"https://orcid.org/0000-0002-0900-2534"},"institutions":[{"id":"https://openalex.org/I74788687","display_name":"Comenius University Bratislava","ror":"https://ror.org/0587ef340","country_code":"SK","type":"education","lineage":["https://openalex.org/I74788687"]},{"id":"https://openalex.org/I4210155685","display_name":"Geneton (Slovakia)","ror":"https://ror.org/051nezy81","country_code":"SK","type":"company","lineage":["https://openalex.org/I4210155685"]}],"countries":["SK"],"is_corresponding":false,"raw_author_name":"Tomas Szemes","raw_affiliation_strings":["Bratislava, Geneton s.r.o, Bratislava, Slovakia","Comenius University Science Park, Bratislava, Slovakia","Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia"],"affiliations":[{"raw_affiliation_string":"Bratislava, Geneton s.r.o, Bratislava, Slovakia","institution_ids":["https://openalex.org/I4210155685"]},{"raw_affiliation_string":"Comenius University Science Park, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]},{"raw_affiliation_string":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia","institution_ids":["https://openalex.org/I74788687"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":14,"corresponding_author_ids":["https://openalex.org/A5040960738"],"corresponding_institution_ids":["https://openalex.org/I4210155685","https://openalex.org/I4210156920"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":2.5384,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.89624748,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"35","issue":"8","first_page":"1284","last_page":"1291"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9998999834060669,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9998999834060669,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9861999750137329,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.9782999753952026,"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/computer-science","display_name":"Computer science","score":0.6040858030319214},{"id":"https://openalex.org/keywords/trisomy","display_name":"Trisomy","score":0.5109285712242126},{"id":"https://openalex.org/keywords/cell-free-fetal-dna","display_name":"Cell-free fetal DNA","score":0.48558610677719116},{"id":"https://openalex.org/keywords/sensitivity","display_name":"Sensitivity (control systems)","score":0.4803570508956909},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.4055250883102417},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.3759579360485077},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"Prenatal diagnosis","score":0.3476078510284424},{"id":"https://openalex.org/keywords/pregnancy","display_name":"Pregnancy","score":0.25947093963623047},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.2462468147277832},{"id":"https://openalex.org/keywords/fetus","display_name":"Fetus","score":0.15924957394599915},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.1442963182926178},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.12163671851158142}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6040858030319214},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.5109285712242126},{"id":"https://openalex.org/C152110520","wikidata":"https://www.wikidata.org/wiki/Q14225730","display_name":"Cell-free fetal DNA","level":5,"score":0.48558610677719116},{"id":"https://openalex.org/C21200559","wikidata":"https://www.wikidata.org/wiki/Q7451068","display_name":"Sensitivity (control systems)","level":2,"score":0.4803570508956909},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.4055250883102417},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3759579360485077},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.3476078510284424},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.25947093963623047},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.2462468147277832},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.15924957394599915},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1442963182926178},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12163671851158142},{"id":"https://openalex.org/C24326235","wikidata":"https://www.wikidata.org/wiki/Q126095","display_name":"Electronic engineering","level":1,"score":0.0},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1093/bioinformatics/bty806","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty806","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"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":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:30219853","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30219853","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:arXiv.org:1806.08552","is_oa":true,"landing_page_url":"http://arxiv.org/abs/1806.08552","pdf_url":"https://arxiv.org/pdf/1806.08552","source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"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"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257066","is_oa":false,"landing_page_url":"http://hdl.handle.net/2437/257066","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"foly\u00f3iratcikk"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257067","is_oa":false,"landing_page_url":"http://hdl.handle.net/2437/257067","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"foly\u00f3iratcikk"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257068","is_oa":false,"landing_page_url":"http://hdl.handle.net/2437/257068","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"foly\u00f3iratcikk"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257069","is_oa":false,"landing_page_url":"http://hdl.handle.net/2437/257069","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"foly\u00f3iratcikk"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257070","is_oa":false,"landing_page_url":"http://hdl.handle.net/2437/257070","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"foly\u00f3iratcikk"},{"id":"pmh:oai:dea.lib.unideb.hu:2437/257217","is_oa":true,"landing_page_url":"http://hdl.handle.net/2437/257217","pdf_url":null,"source":{"id":"https://openalex.org/S4306402089","display_name":"University of Debrecen Electronic Archive (University of Debrecen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I132735039","host_organization_name":"University of Debrecen","host_organization_lineage":["https://openalex.org/I132735039"],"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":"foly\u00f3iratcikk"}],"best_oa_location":{"id":"pmh:oai:arXiv.org:1806.08552","is_oa":true,"landing_page_url":"http://arxiv.org/abs/1806.08552","pdf_url":"https://arxiv.org/pdf/1806.08552","source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"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"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.7200000286102295}],"awards":[],"funders":[{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":52,"referenced_works":["https://openalex.org/W1499358940","https://openalex.org/W1517689472","https://openalex.org/W1859558152","https://openalex.org/W1904456416","https://openalex.org/W1941739197","https://openalex.org/W1984795584","https://openalex.org/W2036551794","https://openalex.org/W2057814045","https://openalex.org/W2062393611","https://openalex.org/W2079345276","https://openalex.org/W2096837288","https://openalex.org/W2100977485","https://openalex.org/W2103468866","https://openalex.org/W2105153258","https://openalex.org/W2115865929","https://openalex.org/W2117342151","https://openalex.org/W2123370218","https://openalex.org/W2124985265","https://openalex.org/W2129665615","https://openalex.org/W2134744749","https://openalex.org/W2138882930","https://openalex.org/W2141196001","https://openalex.org/W2143787281","https://openalex.org/W2144067971","https://openalex.org/W2145380439","https://openalex.org/W2145868259","https://openalex.org/W2155553535","https://openalex.org/W2156283009","https://openalex.org/W2156496744","https://openalex.org/W2157752701","https://openalex.org/W2160764289","https://openalex.org/W2169279496","https://openalex.org/W2199980832","https://openalex.org/W2290193071","https://openalex.org/W2314103829","https://openalex.org/W2316647112","https://openalex.org/W2343579303","https://openalex.org/W2563699674","https://openalex.org/W2583813654","https://openalex.org/W2586156245","https://openalex.org/W2590435983","https://openalex.org/W2612857736","https://openalex.org/W2740669386","https://openalex.org/W2762220419","https://openalex.org/W2767885615","https://openalex.org/W2980815248","https://openalex.org/W3005347330","https://openalex.org/W4235967264","https://openalex.org/W4253045795","https://openalex.org/W4256561866","https://openalex.org/W4361868026","https://openalex.org/W6769803665"],"related_works":["https://openalex.org/W4384282879","https://openalex.org/W3038047282","https://openalex.org/W1977509624","https://openalex.org/W4309332049","https://openalex.org/W2035803341","https://openalex.org/W2343579303","https://openalex.org/W3028925543","https://openalex.org/W2371048051","https://openalex.org/W2924110259","https://openalex.org/W2406850803"],"abstract_inverted_index":{"Supplementary":[0],"materials":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2018-06-29T00:00:00"}
