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SMA carrier screening is an effective way to identify couples at risk of having affected children. Next-generation sequencing (NGS)-based expanded carrier screening could detect\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene copy number without extra experiment and with high cost performance. However, its performance has not been fully evaluated. Here we conducted a systematic comparative study to evaluate the performance of three common methods. 478 samples were analyzed with multiplex ligation probe amplification (MLPA), real-time quantitative polymerase chain reaction (qPCR) and NGS, simultaneously. Taking MLPA-based results as the reference, for 0 copy, 1 copy and\u2009\u2265\u20092 copy\n                    <jats:italic>SMN1<\/jats:italic>\n                    analysis with NGS, the sensitivity, specificity and precision were all 100%. Using qPCR method, the sensitivity was 100%, 97.52% and 94.30%, respectively; 98.63%, 95.48% and 100% for specificity; and 72.72%, 88.72% and 100% for precision. NGS repeatability was higher than that of qPCR. Moreover, among three methods, NGS had the lowest retest rate. Thus, NGS is a relatively more reliable method for\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene copy number detection. In expanded carrier screening, compared with the combination of multiple methods, NGS method could reduce the test cost and simplify the screening process.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-04325-1","type":"journal-article","created":{"date-parts":[[2022,1,7]],"date-time":"2022-01-07T06:03:21Z","timestamp":1641535401000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene"],"prefix":"10.1038","volume":"12","author":[{"given":"Sumin","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoshen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuqing","family":"Xin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhonghai","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyu","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaonan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuelian","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,7]]},"reference":[{"key":"4325_CR1","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","volume":"152A","author":"TW Prior","year":"2010","unstructured":"Prior, T. 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Lancet 371, 2120\u20132133. https:\/\/doi.org\/10.1016\/s0140-6736(08)60921-6 (2008).","journal-title":"Lancet"},{"key":"4325_CR4","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1136\/jmg.15.6.409","volume":"15","author":"J Pearn","year":"1978","unstructured":"Pearn, J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet. 15, 409\u2013413. https:\/\/doi.org\/10.1136\/jmg.15.6.409 (1978).","journal-title":"J. Med. Genet."},{"key":"4325_CR5","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1016\/s0140-6736(80)90847-8","volume":"315","author":"J Pearn","year":"1980","unstructured":"Pearn, J. Classification of spinal muscular atrophies. 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