{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:24:35Z","timestamp":1791199475759,"version":"4.2.0"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Long\u2010read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5\u2010methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available. Here we present NanoImprint, which generates an easily interpretable report, based on long\u2010read nanopore sequencing, to use for identifying clinical relevant abnormalities in methylation levels at 14 imprinted regions and diagnosis of common imprinting disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and conclusion<\/jats:title><jats:p>NanoImprint outputs a summarizing table and visualization plots displays methylation frequency (%) and chromosomal positions for all regions, with phased data color\u2010coded for the two alleles. We demonstrate the utility of NanoImprint using three imprinting disorder samples from patients with Beckwith\u2010Wiedemann syndrome (BWS), Angelman syndrome (AS) and Prader\u2010Willi syndrome (PWS). NanoImprint script is available from <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/github.com\/carolinehey\/NanoImprint\">https:\/\/github.com\/carolinehey\/NanoImprint<\/jats:ext-link>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12556","type":"journal-article","created":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T10:28:42Z","timestamp":1714559322000},"page":"392-398","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders\u00a0using nanopore long\u2010read sequencing"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5852-5242","authenticated-orcid":false,"given":"Caroline Hey","family":"B\u00e6kgaard","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie Boye","family":"Lester","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Clinical Genome Center, Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"M\u00f8ller\u2010Larsen","sequence":"additional","affiliation":[{"name":"Clinical Genome Center, Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde Faurholdt","family":"Lauridsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hospital Lillebaelt, Vejle Hospital  Vejle Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin Jakob","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Clinical Genome Center, Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jare.2022.10.012"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-015-0143-8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-020-0439-x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1593840"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-023-04243-y"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2006.03.019"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0092-0"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/15592294.2016.1264561"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.21105\/joss.01686"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104690"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-23778-6"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12556","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T10:04:41Z","timestamp":1723284281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/ahg.12556"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12556","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"2023-10-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}