{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T18:29:24Z","timestamp":1772908164795,"version":"3.50.1"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"W1","license":[{"start":{"date-parts":[[2021,5,21]],"date-time":"2021-05-21T00:00:00Z","timestamp":1621555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-17-RHUS-0002"],"award-info":[{"award-number":["ANR-17-RHUS-0002"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007492","name":"Fondation Bettencourt Schueller","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007492","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Copy Number Variants (CNVs) are an important cause of rare diseases. Array-based Comparative Genomic Hybridization tests yield a \u223c12% diagnostic rate, with \u223c8% of patients presenting CNVs of unknown significance. CNVs interpretation is particularly challenging on genomic regions outside of those overlapping with previously reported structural variants or disease-associated genes. Recent studies showed that a more comprehensive evaluation of CNV features, leveraging both coding and non-coding impacts, can significantly improve diagnostic rates. However, currently available CNV interpretation tools are mostly gene-centric or provide only non-interactive annotations difficult to assess in the clinical practice. Here, we present CNVxplorer, a web server suited for the functional assessment of CNVs in a clinical diagnostic setting. CNVxplorer mines a comprehensive set of clinical, genomic, and epigenomic features associated with CNVs. It provides sequence constraint metrics, impact on regulatory elements and topologically associating domains, as well as expression patterns. Analyses offered cover (a) agreement with patient phenotypes; (b) visualizations of associations among genes, regulatory elements and transcription factors; (c) enrichment on functional and pathway annotations and (d) co-occurrence of terms across PubMed publications related to the query CNVs. A flexible evaluation workflow allows dynamic re-interrogation in clinical sessions. CNVxplorer is publicly available at http:\/\/cnvxplorer.com.<\/jats:p>","DOI":"10.1093\/nar\/gkab347","type":"journal-article","created":{"date-parts":[[2021,5,20]],"date-time":"2021-05-20T07:17:04Z","timestamp":1621495024000},"page":"W93-W103","source":"Crossref","is-referenced-by-count":17,"title":["CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients"],"prefix":"10.1093","volume":"49","author":[{"given":"Francisco","family":"Requena","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Clinical Bioinformatics Laboratory, Imagine Institute, INSERM UMR1163, F-75015 Paris, France"}]},{"given":"Hamza Hadj","family":"Abdallah","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Service de Cytog\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, APHP, F-75015 Paris, France"}]},{"given":"Alejandro","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Clinical Bioinformatics Laboratory, Imagine Institute, INSERM UMR1163, F-75015 Paris, France"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Plateforme de Bioinformatique, Universit\u00e9 Paris Descartes, F-75015 Paris, France"}]},{"given":"Sergi","family":"Romana","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Service de Cytog\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, APHP, F-75015 Paris, France"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Service de Cytog\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, APHP, F-75015 Paris, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4832-6101","authenticated-orcid":false,"given":"Antonio","family":"Rausell","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, Institut Imagine, F-75006 Paris, France"},{"name":"Clinical Bioinformatics Laboratory, Imagine Institute, INSERM UMR1163, F-75015 Paris, France"},{"name":"Service de G\u00e9n\u00e9tique Moleculaire, H\u00f4pital Necker-Enfants Malades, APHP, F-75015, Paris, France"}]}],"member":"286","published-online":{"date-parts":[[2021,5,21]]},"reference":[{"key":"2021070812083484800_B1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ajhg.2015.06.009","article-title":"The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities","volume":"97","author":"Chong","year":"2015","journal-title":"Am. 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