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Some intronic variants and copy number variants in\n                    <jats:italic>GLA<\/jats:italic>\n                    can cause Fabry disease but will not be detected by classical Sanger sequence. We aimed to design and validate a method for sequencing the\n                    <jats:italic>GLA<\/jats:italic>\n                    gene using long-read Oxford Nanopore sequencing technology. Twelve Fabry patients were blindly analyzed, both by conventional Sanger sequence and by long-read sequencing of a 13\u00a0kb PCR amplicon. We used minimap2 to align the long-read data and Nanopolish and Sniffles to call variants. All the variants detected by Sanger (including a deep intronic variant) were also detected by long-read sequencing. One patient had a deletion that was not detected by Sanger sequencing but was detected by the new technology. Our long-read sequencing-based method was able to detect missense variants and an exonic deletion, with the added advantage of intronic analysis. It can be used as an efficient and cost-effective tool for screening and diagnosing Fabry disease.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-01749-7","type":"journal-article","created":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T06:06:37Z","timestamp":1637042797000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing"],"prefix":"10.1038","volume":"11","author":[{"given":"Albina","family":"Nowak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer","family":"Murik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzvia","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Zeevi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,16]]},"reference":[{"key":"1749_CR1","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady, R. 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