{"id":"https://openalex.org/W2166036749","doi":"https://doi.org/10.1373/clinchem.2010.146290","title":"Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination","display_name":"Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination","publication_year":2010,"publication_date":"2010-08-21","ids":{"openalex":"https://openalex.org/W2166036749","doi":"https://doi.org/10.1373/clinchem.2010.146290","mag":"2166036749","pmid":"https://pubmed.ncbi.nlm.nih.gov/20729299"},"language":"en","primary_location":{"id":"doi:10.1373/clinchem.2010.146290","doi":"https://doi.org/10.1373/clinchem.2010.146290","is_oa":false,"landing_page_url":"https://doi.org/10.1373/clinchem.2010.146290","pdf_url":null,"source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066160219","display_name":"Anders O.H. Nygren","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anders OH Nygren","raw_affiliation_strings":["Sequenom Center for Molecular Medicine, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom Center for Molecular Medicine, San Diego, CA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081758671","display_name":"Jarrod Dean","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jarrod Dean","raw_affiliation_strings":["Sequenom Center for Molecular Medicine, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom Center for Molecular Medicine, San Diego, CA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003764522","display_name":"Taylor J. Jensen","orcid":"https://orcid.org/0000-0002-7206-7656","observed_orcids":["https://orcid.org/0000-0002-7206-7656"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Taylor J Jensen","raw_affiliation_strings":["Sequenom Center for Molecular Medicine, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom Center for Molecular Medicine, San Diego, CA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018789046","display_name":"Selena Kruse","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Selena Kruse","raw_affiliation_strings":["Sequenom Center for Molecular Medicine, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom Center for Molecular Medicine, San Diego, CA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046424650","display_name":"William Kwong","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"William Kwong","raw_affiliation_strings":["Sequenom Center for Molecular Medicine, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom Center for Molecular Medicine, San Diego, CA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114010838","display_name":"Dirk van den Boom","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210143017","display_name":"Sequenom (United States)","ror":"https://ror.org/03rb80v65","country_code":"US","type":"company","lineage":["https://openalex.org/I4210143017"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dirk van den Boom","raw_affiliation_strings":["Sequenom, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom, San Diego, CA","institution_ids":["https://openalex.org/I4210143017"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046335496","display_name":"Mathias Ehrich","orcid":"https://orcid.org/0000-0001-8415-0310","observed_orcids":["https://orcid.org/0000-0001-8415-0310"]},"institutions":[{"id":"https://openalex.org/I4210143017","display_name":"Sequenom (United States)","ror":"https://ror.org/03rb80v65","country_code":"US","type":"company","lineage":["https://openalex.org/I4210143017"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Mathias Ehrich","raw_affiliation_strings":["Sequenom, San Diego, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sequenom, San Diego, CA","institution_ids":["https://openalex.org/I4210143017"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5046335496"],"corresponding_institution_ids":["https://openalex.org/I4210143017"],"apc_list":{"value":4636,"currency":"USD","value_usd":4636},"apc_paid":null,"fwci":9.344,"has_fulltext":true,"cited_by_count":142,"citation_normalized_percentile":{"value":0.9828174,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":100},"biblio":{"volume":"56","issue":"10","first_page":"1627","last_page":"1635"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0003000000142492354,"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/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.0,"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/cell-free-fetal-dna","display_name":"cell-free fetal DNA","score":0.8009999990463257},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.6660000085830688},{"id":"https://openalex.org/keywords/methylation-sensitive-restriction-enzymes","display_name":"methylation-sensitive restriction enzymes","score":0.8119999766349792},{"id":"https://openalex.org/keywords/noninvasive-prenatal-diagnosis","display_name":"noninvasive prenatal diagnosis","score":0.7799999713897705},{"id":"https://openalex.org/keywords/maternal-plasma","display_name":"maternal plasma","score":0.8389999866485596},{"id":"https://openalex.org/keywords/fetal-fraction","display_name":"fetal fraction","score":0.8299999833106995},{"id":"https://openalex.org/keywords/sox14","display_name":"SOX14","score":0.9190000295639038},{"id":"https://openalex.org/keywords/tbx3","display_name":"TBX3","score":0.996999979019165},{"id":"https://openalex.org/keywords/competitive-pcr","display_name":"competitive PCR","score":0.703000009059906},{"id":"https://openalex.org/keywords/single-base-extension","display_name":"single base extension","score":0.7900000214576721},{"id":"https://openalex.org/keywords/maldi-tof-mass-spectrometry","display_name":"MALDI-TOF mass spectrometry","score":0.9660000205039978}],"concepts":[{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.7214661836624146},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.7056386470794678},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.7030573487281799},{"id":"https://openalex.org/C152110520","wikidata":"https://www.wikidata.org/wiki/Q14225730","display_name":"Cell-free fetal DNA","level":5,"score":0.6992971301078796},{"id":"https://openalex.org/C24107716","wikidata":"https://www.wikidata.org/wiki/Q123619","display_name":"Nucleic acid","level":2,"score":0.6897239685058594},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.5959804058074951},{"id":"https://openalex.org/C129312508","wikidata":"https://www.wikidata.org/wiki/Q133686","display_name":"Oligonucleotide","level":3,"score":0.5339226722717285},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.523577094078064},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.5015895366668701},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.47435152530670166},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.36912673711776733},{"id":"https://openalex.org/C16685009","wikidata":"https://www.wikidata.org/wiki/Q335057","display_name":"Andrology","level":1,"score":0.3210351765155792},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27882349491119385},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.25517183542251587},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2100876271724701},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.15817826986312866},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.11243608593940735}],"mesh":[{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D004262","descriptor_name":"DNA Restriction Enzymes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005240","descriptor_name":"Feasibility Studies","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":"D005333","descriptor_name":"Fetus","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010920","descriptor_name":"Placenta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","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":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019032","descriptor_name":"Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020825","descriptor_name":"T-Box Domain Proteins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D020825","descriptor_name":"T-Box Domain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055749","descriptor_name":"SOXB2 Transcription Factors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D055749","descriptor_name":"SOXB2 Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1373/clinchem.2010.146290","doi":"https://doi.org/10.1373/clinchem.2010.146290","is_oa":false,"landing_page_url":"https://doi.org/10.1373/clinchem.2010.146290","pdf_url":null,"source":{"id":"https://openalex.org/S139212996","display_name":"Clinical Chemistry","issn_l":"0009-9147","issn":["0009-9147","1530-8561"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320272","host_organization_name":"American Association for Clinical Chemistry","host_organization_lineage":["https://openalex.org/P4310320272"],"host_organization_lineage_names":["American Association for Clinical Chemistry"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Chemistry","raw_type":"journal-article"},{"id":"pmid:20729299","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20729299","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,"listed_in":[],"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":"Clinical chemistry","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W63832662","https://openalex.org/W1602222199","https://openalex.org/W1916944394","https://openalex.org/W1971034474","https://openalex.org/W1980837114","https://openalex.org/W1983542807","https://openalex.org/W1988200035","https://openalex.org/W1989510116","https://openalex.org/W1989597193","https://openalex.org/W2013659231","https://openalex.org/W2021714239","https://openalex.org/W2040041836","https://openalex.org/W2045356522","https://openalex.org/W2046049047","https://openalex.org/W2053120783","https://openalex.org/W2053845872","https://openalex.org/W2071428826","https://openalex.org/W2082868265","https://openalex.org/W2090668105","https://openalex.org/W2098453953","https://openalex.org/W2098645919","https://openalex.org/W2100977485","https://openalex.org/W2114088428","https://openalex.org/W2115865929","https://openalex.org/W2116002669","https://openalex.org/W2122837482","https://openalex.org/W2130572312","https://openalex.org/W2132123255","https://openalex.org/W2153645851","https://openalex.org/W2158541703","https://openalex.org/W2162343388","https://openalex.org/W2472803558","https://openalex.org/W3147670700","https://openalex.org/W3210040150","https://openalex.org/W6647714021"],"related_works":["https://openalex.org/W2360756603","https://openalex.org/W2097236231","https://openalex.org/W2023399259","https://openalex.org/W323772999","https://openalex.org/W2331902707","https://openalex.org/W2070725237","https://openalex.org/W2396041564","https://openalex.org/W2182052462","https://openalex.org/W2152274339","https://openalex.org/W1920471819"],"abstract_inverted_index":{"BACKGROUND:":[0],"Detection":[1],"of":[2,25,34,87,108,123,162,165,174,205,225,242],"circulating":[3,88,226],"cell-free":[4,89,227],"fetal":[5,26,53,85,114,166,172,243],"nucleic":[6,27],"acids":[7,28],"in":[8,14,76,120,176,215,245],"maternal":[9,59,80,93,105,250],"plasma":[10,168,189],"has":[11],"been":[12],"used":[13,98],"noninvasive":[15],"prenatal":[16],"diagnostics.":[17],"Most":[18],"applications":[19],"rely":[20],"on":[21],"the":[22,31,35,84,104,109,121,203,219,240],"qualitative":[23],"detection":[24],"to":[29,40,70,79,82,102,127],"determine":[30],"genetic":[32],"makeup":[33],"fetus.":[36],"This":[37],"method":[38],"leads":[39],"an":[41,197],"analytic":[42],"dilemma,":[43],"because":[44],"test":[45],"results":[46,230],"from":[47,92,179,188,190,249],"samples":[48,177,186],"that":[49,73,232],"do":[50],"not":[51],"contain":[52],"DNA":[54,61,90,110,115,185,244],"or":[55],"are":[56,74],"contaminated":[57],"with":[58],"cellular":[60],"can":[62],"be":[63],"misleading.":[64],"We":[65,182],"developed":[66],"a":[67,124,160,170,246],"multiplex":[68,234],"approach":[69],"analyze":[71],"regions":[72,214],"hypermethylated":[75],"placenta":[77],"relative":[78],"blood":[81],"evaluate":[83],"portion":[86],"isolated":[91,187,248],"plasma.":[94,251],"METHODS:":[95],"The":[96,112,131],"assay":[97,204],"methylation-sensitive":[99],"restriction":[100],"enzymes":[101],"eliminate":[103],"(unmethylated)":[106],"fraction":[107,116,173],"sample.":[111],"undigested":[113],"was":[117],"then":[118],"coamplified":[119],"presence":[122],"synthetic":[125],"oligonucleotide":[126],"permit":[128],"competitive":[129],"PCR.":[130],"amplification":[132],"products":[133],"were":[134],"quantified":[135],"by":[136],"single-base":[137],"extension":[138],"and":[139,154,169,192,195,200,207,222,238],"MALDI-TOF":[140],"MS":[141],"analysis.":[142],"RESULTS:":[143],"Using":[144],"2":[145],"independent":[146],"markers,":[147],"(sex":[148],"determining":[149],"region":[150],"Y)-box":[151],"14":[152],"(SOX14)":[153],"T-box":[155],"3":[156],"(TBX3),":[157],"we":[158,217],"measured":[159],"mean":[161,171],"151":[163],"copies":[164],"DNA/mL":[167],"0.13":[175],"obtained":[178],"pregnant":[180,191],"women.":[181],"investigated":[183],"242":[184],"nonpregnant":[193],"women":[194],"observed":[196],"analytical":[198],"sensitivity":[199],"specificity":[201],"for":[202],"99%":[206],"100%,":[208],"respectively.":[209],"CONCLUSIONS:":[210],"By":[211],"investigating":[212],"several":[213],"parallel,":[216],"reduced":[218],"measurement":[220],"variance":[221],"enabled":[223],"quantification":[224],"DNA.":[228],"Our":[229],"indicate":[231],"this":[233],"methylation-based":[235],"reaction":[236],"detects":[237],"quantifies":[239],"amount":[241],"sample":[247]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":15},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":14},{"year":2013,"cited_by_count":13},{"year":2012,"cited_by_count":10}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
