{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T14:54:47Z","timestamp":1792421687067,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T00:00:00Z","timestamp":1738886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["EU952516"],"award-info":[{"award-number":["EU952516"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006598","name":"Ettev\u00f5tluse Arendamise Sihtasutus","doi-asserted-by":"publisher","award":["EU48695"],"award-info":[{"award-number":["EU48695"]}],"id":[{"id":"10.13039\/501100006598","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006598","name":"Ettev\u00f5tluse Arendamise Sihtasutus","doi-asserted-by":"publisher","award":["EU53935"],"award-info":[{"award-number":["EU53935"]}],"id":[{"id":"10.13039\/501100006598","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1076"],"award-info":[{"award-number":["PRG1076"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG1291"],"award-info":[{"award-number":["PRG1291"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003510","name":"Haridus- ja Teadusministeerium","doi-asserted-by":"publisher","award":["TK214"],"award-info":[{"award-number":["TK214"]}],"id":[{"id":"10.13039\/501100003510","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Clinically pathogenic chromosomal microdeletions cause severe genetic disorders. Motivated by the absence of reliable screening of microdeletions during the first\u2010trimester screening, we developed BinDel, a software tool to determine the risk of clinically relevant pathogenic fetal microdeletions from low\u2010coverage whole\u2010genome\u2010sequencing (WGS) based NIPT data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We developed novel computational software that employs a targeted approach with region\u2010specific normalisation and calling procedures to detect microdeletion risk in predefined chromosomal regions. The software was developed using 500 NIPT samples and validated on an additional 84 samples, including 34 rare fetal microdeletions confirmed both pre\u2010 and postnatally.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>BinDel correctly identified 30 out of 34 samples with microdeletions, with only three false\u2010positive calls among 50 euploid samples, all latter originating from the Williams\u2010Beuren and Prader\u2010Willi\/Angelman syndrome\u2010associated microdeletion regions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We confirmed BinDel's feasibility for integrating microdeletion analysis into routine NIPT protocol. This work stands as a unique contribution to prenatal microdeletion screening, providing a novel and readily available software tool that was validated with a large set of actual microdeletion samples, positioning it as the first of its kind in the field. BinDel is available at\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/github.com\/seqinfo\/BinDel\">https:\/\/github.com\/seqinfo\/BinDel<\/jats:ext-link>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6758","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T08:42:36Z","timestamp":1739263356000},"page":"352-361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low\u2010Coverage Whole\u2010Genome Sequencing\u2010Based NIPT"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2016-661X","authenticated-orcid":false,"given":"Priit","family":"Paluoja","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Institute of Clinical Medicine University of Tartu  Tartu Estonia"},{"name":"Celvia CC AS  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Jatsenko","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hindrek","family":"Teder","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Institute of Clinical Medicine University of Tartu  Tartu Estonia"},{"name":"Celvia CC AS  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaarel","family":"Krjut\u0161kov","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Institute of Clinical Medicine University of Tartu  Tartu Estonia"},{"name":"Celvia CC AS  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3071-1191","authenticated-orcid":false,"given":"Joris Robert","family":"Vermeesch","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andres","family":"Salumets","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Institute of Clinical Medicine University of Tartu  Tartu Estonia"},{"name":"Celvia CC AS  Tartu Estonia"},{"name":"Division of Obstetrics and Gynecology Department of Clinical Science Intervention and Technology Karolinska Institutet and Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9320-7008","authenticated-orcid":false,"given":"Priit","family":"Palta","sequence":"additional","affiliation":[{"name":"Institute of Genomics University of Tartu  Tartu Estonia"},{"name":"Institute for Molecular Medicine Finland (FIMM) University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20101\u201033"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.002"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000519057"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14010160"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/UOG.14636"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2014.233312"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/PD.5161"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13098"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4640"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0238245"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5620"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010091212\u2010153408"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1263"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/biostatistics\/kxh008"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201002031\u20105"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.32"},{"key":"e_1_2_10_21_1","first-page":"300","article-title":"Genomics in the Cloud: Using Docker, GATK, and WDL in Terra","author":"Van der Auwera G.","year":"2020","journal-title":"Genomics in the Cloud"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/BIOINFORMATICS\/BTP324"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1009684"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmsr1406261"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.282"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001009\u20105"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bf15e3"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100543"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4119"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/PD.4613"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6758","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T21:55:20Z","timestamp":1749160520000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6758"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,7]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/pd.6758"],"URL":"https:\/\/doi.org\/10.1002\/pd.6758","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.09.20.22280152","asserted-by":"object"}]},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,7]]},"assertion":[{"value":"2024-07-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}