{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T19:51:57Z","timestamp":1774727517230,"version":"3.50.1"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"vor","delay-in-days":16,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"EU Horizon Europe Research and Innovation","award":["101136262"],"award-info":[{"award-number":["101136262"]}]},{"name":"Better Real-World Health-Data Distributed Analytics Research Platform","award":["PCIH2408"],"award-info":[{"award-number":["PCIH2408"]}]},{"name":"RAC1-Torrons Vicens grant and partially funded by the Institute of Health Carlos III","award":["IMP\/00019"],"award-info":[{"award-number":["IMP\/00019"]}]},{"name":"ERDF, \u201cA way to make Europe"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Chromosomal abnormalities, referred to as aneuploidies, occur in approximately 0.3% of live births. While the majority of aneuploidies in humans are incompatible with life, well-characterized exceptions include Down syndrome (47,+21), Patau syndrome (47,+13), Edwards syndrome (47,+18), Turner syndrome (45,X0), Klinefelter syndrome (47,XXY), and triple X syndrome (47,XXX). These chromosomal alterations disrupt gene expression and cellular function, leading to genetic and developmental disorders. With the increasing adoption of next generation sequencing (NGS) in clinical diagnostics, this study aims to explore the potential use of NGS for aneuploidies detection.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Using data derived from clinical exomes (CES) and whole exomes (WES) sequencing we have been able to detect autosomal as well as sex chromosome aneuploidies with high specificity. Moreover, we have also been able to identify mosaic aneuploidies proving the high sensibility of this methodological approach. Thus, we present NGS as a cost-effective first line approach to detect chromosomal aneuploidies in routine diagnostic practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Scripts are available at https:\/\/github.com\/B-R-I-D-G-E\/AneuploidiesStudies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btag104","type":"journal-article","created":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T12:24:17Z","timestamp":1772454257000},"source":"Crossref","is-referenced-by-count":0,"title":["Identification of autosomal and sex chromosome aneuploidies using next generation sequencing"],"prefix":"10.1093","volume":"42","author":[{"given":"Nidia","family":"Barco-Armengol","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan 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08950,","place":["Spain"]}]},{"given":"N\u00faria","family":"Catas\u00fas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Sant Joan de D\u00e9u , Esplugues de Llobregat, 08950,","place":["Spain"]}]},{"given":"Laura","family":"Mart\u00ed-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Sant Joan de D\u00e9u , Esplugues de Llobregat, 08950,","place":["Spain"]}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Genomics for the Diagnosis of Rare Diseases, Institut de Recerca Sant Joan de D\u00e9u , Esplugues de Llobregat, 08950,","place":["Spain"]},{"name":"Department of Genetics, Hospital Sant Joan de D\u00e9u , Esplugues de Llobregat, 08950,","place":["Spain"]},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII , Madrid, 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