{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:33:11Z","timestamp":1748478791039,"version":"3.37.3"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100005632","name":"Narodowe Centrum Bada\u0144 i Rozwoju","doi-asserted-by":"publisher","award":["SZPITALE-JEDNOIMIENNE\/2\/2020"],"award-info":[{"award-number":["SZPITALE-JEDNOIMIENNE\/2\/2020"]}],"id":[{"id":"10.13039\/501100005632","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023181","name":"Medical Research Agency","doi-asserted-by":"crossref","award":["2020\/ABM\/ COVID19\/0022"],"award-info":[{"award-number":["2020\/ABM\/ COVID19\/0022"]}],"id":[{"id":"10.13039\/501100023181","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s13353-022-00737-5","type":"journal-article","created":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T10:18:39Z","timestamp":1669198719000},"page":"135-139","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals"],"prefix":"10.1007","volume":"64","author":[{"given":"Mateusz","family":"Sypniewski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominika","family":"Kresa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Dobosz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Topolski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Kotu\u0142a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Sztromwasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8731-0540","authenticated-orcid":false,"given":"Magdalena","family":"Mroczek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,11,23]]},"reference":[{"issue":"2","key":"737_CR1","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1097\/GIM.0b013e3182017c05","volume":"13","author":"S Ben-Shachar","year":"2011","unstructured":"Ben-Shachar S, Orr-Urtreger A, Bardugo E, Shomrat R, Yaron Y (2011) Large-scale population screening for spinal muscular atrophy: clinical implications. Genet Med 13(2):110\u2013114. https:\/\/doi.org\/10.1097\/GIM.0b013e3182017c05","journal-title":"Genet Med"},{"issue":"10348","key":"737_CR2","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1016\/S0140-6736(22)01378-2","volume":"400","author":"T Burki","year":"2022","unstructured":"Burki T (2022) UK explores whole-genome sequencing for newborn babies. Lancet 400(10348):260\u2013261. https:\/\/doi.org\/10.1016\/S0140-6736(22)01378-2","journal-title":"Lancet"},{"issue":"1","key":"737_CR3","doi-asserted-by":"publisher","first-page":"6694","DOI":"10.1038\/s41467-022-34116-9","volume":"13","author":"SH Chan","year":"2022","unstructured":"Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, Li Z, Chai JF, Chong YS, Davila S, Goh LL, Lee ES, Wong E, Wong TY, SG10K_Health Consortium, Prabhakar S, Liu J, Cheng CY, Eisenhaber B, Karnani N, Leong KP, Sim X, Yeo KK, Chambers JC, Tai ES, Tan P, Jamuar SS, Ngeow J, Lim WK (2022) Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun 13(1):6694. https:\/\/doi.org\/10.1038\/s41467-022-34116-9","journal-title":"Nat Commun"},{"issue":"5","key":"737_CR4","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1038\/s41436-020-0754-0","volume":"22","author":"X Chen","year":"2020","unstructured":"Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, NIHR BioResource, Bentley DR, Butchbach MER, Raymond FL, Eberle MA (2020) Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 22(5):945\u2013953. https:\/\/doi.org\/10.1038\/s41436-020-0754-0","journal-title":"Genet Med."},{"issue":"8","key":"737_CR5","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1038\/gim.2016.215","volume":"19","author":"Y Feng","year":"2017","unstructured":"Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J (2017) The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med 19(8):936\u2013944. https:\/\/doi.org\/10.1038\/gim.2016.215","journal-title":"Genet Med"},{"issue":"1","key":"737_CR6","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3390\/ijns8010015","volume":"8","author":"L Gailite","year":"2022","unstructured":"Gailite L, Sterna O, Konika M, Isakovs A, Isakova J, Micule I, Setlere S, Diriks M, Auzenbaha M (2022) New-born screening for spinal muscular atrophy: results of a Latvian pilot study. Int J Neonatal Screen 8(1):15. https:\/\/doi.org\/10.3390\/ijns8010015","journal-title":"Int J Neonatal Screen"},{"key":"737_CR7","unstructured":"Gos M, J\u0119drzejowska M (2022) Strona Polskiego Towarzystwa Genetyki Cz\u0142owieka Informacja dotycz\u0105ca bada\u0144 genetycznych w kierunku SMA. (accessed 23.08.2022) informacja-i-stanowisko-PTGC-PTND_14.03.2022_ost11.pdf"},{"issue":"10","key":"737_CR8","doi-asserted-by":"publisher","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","volume":"23","author":"AR Gregg","year":"2021","unstructured":"Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, ACMG Professional Practice and Guidelines Committee (2021) Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23(10):1793\u20131806. https:\/\/doi.org\/10.1038\/s41436-021-01203-z","journal-title":"Genet Med"},{"issue":"3","key":"737_CR9","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1159\/000275492","volume":"34","author":"M Jedrzejowska","year":"2010","unstructured":"Jedrzejowska M, Milewski M, Zimowski J, Zagozdzon P, Kostera-Pruszczyk A, Borkowska J, Sielska D, Jurek M, Hausmanowa-Petrusewicz I (2010) Incidence of spinal muscular atrophy in Poland\u2013more frequent than predicted? Neuroepidemiology 34(3):152\u2013157. https:\/\/doi.org\/10.1159\/000275492","journal-title":"Neuroepidemiology"},{"issue":"9","key":"737_CR10","doi-asserted-by":"publisher","first-page":"4532","DOI":"10.3390\/ijms23094532","volume":"23","author":"E Kaja","year":"2022","unstructured":"Kaja E, Lejman A, Sielski D, Sypniewski M, Gambin T, Dawidziuk M, Suchocki T, Golik P, Wojtaszewska M, Mroczek M, St\u0119pie\u0144 M, Szyda J, Lisiak-Teodorczyk K, Wolbach F, Ko\u0142odziejska D, Ferdyn K, D\u0105browski M, Wo\u017ana A, \u017bytkiewicz M, Bodora-Troi\u0144ska A, Elikowski W, Kr\u00f3l ZJ, Zaczy\u0144ski A, Pawlak A, Gil R, Wierzba W, Dobosz P, Zawadzka K, Zawadzki P, Sztromwasser P (2022) The Thousand Polish Genomes-a database of Polish variant allele frequencies. Int J Mol Sci 23(9):4532. https:\/\/doi.org\/10.3390\/ijms23094532","journal-title":"Int J Mol Sci"},{"key":"737_CR11","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1186\/s12881-015-0246-2","volume":"16","author":"JL Larson","year":"2015","unstructured":"Larson JL, Silver AJ, Chan D, Borroto C, Spurrier B, Silver LM (2015) Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. BMC Med Genet 16:100. https:\/\/doi.org\/10.1186\/s12881-015-0246-2","journal-title":"BMC Med Genet"},{"issue":"2","key":"737_CR12","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/gim.2013.84","volume":"16","author":"M Luo","year":"2014","unstructured":"Luo M, Liu L, Peter I, Zhu J, Scott SA, Zhao G, Eversley C, Kornreich R, Desnick RJ, Edelmann L (2014) An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genet Med 16(2):149\u2013156. https:\/\/doi.org\/10.1038\/gim.2013.84","journal-title":"Genet Med"},{"issue":"12","key":"737_CR13","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1038\/gim.2016.58","volume":"18","author":"D Mandelker","year":"2016","unstructured":"Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B (2016) Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genet Med 18(12):1282\u20131289. https:\/\/doi.org\/10.1038\/gim.2016.58","journal-title":"Genet Med"},{"key":"737_CR14","doi-asserted-by":"publisher","unstructured":"Prior T, for the Professional Practice and Guidelines Committee (2008) Carrier screening for spinal muscular atrophy. Genet Med 10:840\u2013842. https:\/\/doi.org\/10.1097\/GIM.0b013e318188d069","DOI":"10.1097\/GIM.0b013e318188d069"},{"key":"737_CR15","unstructured":"Prior TW, Leach ME, Finanger E (2000) Spinal muscular atrophy. [Updated 2020 Dec 3]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132022. Available from:\u00a0https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1. Accessed 08 Jan 2022"},{"issue":"3","key":"737_CR16","doi-asserted-by":"publisher","first-page":"53","DOI":"10.3390\/ijns7030053","volume":"7","author":"VL Romanelli Tavares","year":"2021","unstructured":"Romanelli Tavares VL, Monfardini F, Louren\u00e7o NCV, da Rocha KM, Weinmann K, Pavanello R, Zatz M (2021) Newborn screening for 5q spinal muscular atrophy: comparisons between real-time PCR methodologies and cost estimations for future implementation programs. Int J Neonatal Screen 7(3):53. https:\/\/doi.org\/10.3390\/ijns7030053","journal-title":"Int J Neonatal Screen"},{"issue":"1","key":"737_CR17","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ejhg.2011.134","volume":"20","author":"EA Sugarman","year":"2012","unstructured":"Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA (2012) Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 20(1):27\u201332. https:\/\/doi.org\/10.1038\/ejhg.2011.134","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"737_CR18","doi-asserted-by":"publisher","first-page":"e0220211","DOI":"10.1371\/journal.pone.0220211","volume":"14","author":"R Vijzelaar","year":"2019","unstructured":"Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, Molleman N, Boschloo R, Yilmaz R, Kuilboer R, Lens S, Sulchan S, Schouten J (2019) The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent. PLoS ONE 14(7):e0220211. https:\/\/doi.org\/10.1371\/journal.pone.0220211","journal-title":"PLoS ONE"},{"issue":"1","key":"737_CR19","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1038\/s41431-020-00714-8","volume":"29","author":"S Zhao","year":"2021","unstructured":"Zhao S, Wang W, Wang Y, Han R, Fan C, Ni P, Guo F, Zeng F, Yang Q, Yang Y, Sun Y, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Shang X, Xu X, Sun J, Peng Z (2021) NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study. Eur J Hum Genet 29(1):194\u2013204. https:\/\/doi.org\/10.1038\/s41431-020-00714-8","journal-title":"Eur J Hum Genet"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-022-00737-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-022-00737-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-022-00737-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T02:11:53Z","timestamp":1673575913000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-022-00737-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,23]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["737"],"URL":"https:\/\/doi.org\/10.1007\/s13353-022-00737-5","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"type":"print","value":"1234-1983"},{"type":"electronic","value":"2190-3883"}],"subject":[],"published":{"date-parts":[[2022,11,23]]},"assertion":[{"value":"24 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 November 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 November 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki and approved by the Institutional Ethics Committee of the Central Clinical Hospital of the Ministry of Interior and Administration in Warsaw (decision nr: 41\/2020 from 03.04.2020 and 125\/2020 from 1.07.2020).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from all subjects involved in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent Statement"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}