{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:22:52Z","timestamp":1792783372317,"version":"4.5.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universidade Federal Do Rio Grande Do Sul","id":[{"id":"https:\/\/ror.org\/041yk2d64","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Oculocutaneous albinism (OCA) is a genetic condition with an estimated global prevalence of 1 in 17,000, though this varies across populations. The Kaingang are a Brazilian Indigenous group belonging to the Macro-J\u00ea language family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Report a novel variant\n                      <jats:italic>TYR<\/jats:italic>\n                      :c.704A&gt;G; p.\n                      <jats:italic>Tyr<\/jats:italic>\n                      235Cys in homozygosity among individuals of Kaingang ethnicity in the state of Rio Grande do Sul, Brazil.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A commercial next-generation sequencing (NGS-based) panel for hypopigmentation and oculocutaneous albinism was applied to one saliva sample; exome sequencing (ES) was performed using NGS in another individual; and the remaining 14 individuals were genotyped by quantitative real-time (qPCR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The detection of this variant in 14 individuals from the same Indigenous Territory, within an estimated population of 6,000, yields an allele frequency of 0.05, suggesting a founder effect in this population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion\/Conclusion<\/jats:title>\n                    <jats:p>The affected individuals were not closely related, suggesting that the recurrence of the variant is not due to recent consanguinity but rather to population structure and inheritance from a common ancestor. In addition, NGS and ES have proven essential for accurate diagnosis of oculocutaneous albinism and for molecular reclassification of cases previously diagnosed clinically. This study contributes to understanding the molecular profile of albinism in Brazilian Indigenous populations, sheds light on historically underrepresented communities in genetic research and has the potential to inform targeted interventions and public health policies for individuals with albinism in these communities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s12687-026-00948-x","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:53:23Z","timestamp":1790229203000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil"],"prefix":"10.1007","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5924-2829","authenticated-orcid":false,"given":"Paulyana","family":"Corecco-Moura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0649-1237","authenticated-orcid":false,"given":"La\u00e9rcio Moreira","family":"Cardoso-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6325-3086","authenticated-orcid":false,"given":"Osvaldo Alfonso Pinto","family":"Artigal\u00e1s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6339-4869","authenticated-orcid":false,"given":"Fernanda Sales Luiz","family":"Vianna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3170-346X","authenticated-orcid":false,"given":"Ana Paula Pedroso","family":"Junges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4792-8466","authenticated-orcid":false,"given":"Renan Rangel","family":"Bonamigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3798-0503","authenticated-orcid":false,"given":"Carmem Rafael","family":"Sales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-9292","authenticated-orcid":false,"given":"Guilherme Ladwig","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5503-2331","authenticated-orcid":false,"given":"Patricia Ioschpe","family":"Gus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2387-3079","authenticated-orcid":false,"given":"Luana","family":"da Silva Kaingang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3036-5184","authenticated-orcid":false,"given":"Leocir Muller","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5596-8726","authenticated-orcid":false,"given":"Daniel Fernando Campos","family":"Sales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7551-7414","authenticated-orcid":false,"given":"Daniela Sales","family":"Kaingang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4022-6309","authenticated-orcid":false,"given":"Ana Paula","family":"Ornaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-6667","authenticated-orcid":false,"given":"Marcia Holsbach","family":"Beltrame","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2428-0460","authenticated-orcid":false,"given":"Lav\u00ednia","family":"Sch\u00fcler-Faccini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,24]]},"reference":[{"issue":"15","key":"948_CR1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics14151583","volume":"14","author":"M Bjelo\u0161","year":"2024","unstructured":"Bjelo\u0161 M, \u0106uri\u0107 A, Bu\u0161i\u0107 M, Rak B, Elabjer BK (2024) Genotype\u2013phenotype correlation model for the spectrum of TYR-associated albinism. Diagnostics (Basel) 14(15):1583. https:\/\/doi.org\/10.3390\/diagnostics14151583","journal-title":"Diagnostics (Basel)"},{"issue":"11","key":"948_CR2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0313777","volume":"19","author":"WA C\u00e1rdenas","year":"2024","unstructured":"C\u00e1rdenas WA, Conley AB, Nagar SD, N\u00fa\u00f1ez-R\u00edos DL, Jordan IK, Lattig MC (2024) Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. PLoS One 19(11):e0313777. https:\/\/doi.org\/10.1371\/journal.pone.0313777","journal-title":"PLoS One"},{"issue":"1","key":"948_CR3","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msab339","volume":"39","author":"MA Castro E Silva","year":"2022","unstructured":"Castro E Silva MA, Ferraz T, Couto-Silva CM, Lemes RB, Nunes K, Comas D, H\u00fcnemeier T (2022) Population histories and genomic diversity of South American natives. Mol Biol Evol 39(1):msab339. https:\/\/doi.org\/10.1093\/molbev\/msab339","journal-title":"Mol Biol Evol"},{"issue":"1","key":"948_CR5","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1080\/02713683.2020.1795676","volume":"46","author":"Z Chuan","year":"2021","unstructured":"Chuan Z, Yan Y, Hao S, Zhang Q, Zhou B, Feng X, Wang X, Liu F, Zheng L, Cao Z, Ma X (2021) Mutation analysis of 63 northwest Chinese probands with oculocutaneous albinism. Curr Eye Res 46(1):140\u2013143. https:\/\/doi.org\/10.1080\/02713683.2020.1795676","journal-title":"Curr Eye Res"},{"issue":"8","key":"948_CR6","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1097\/DSS.0000000000003862","volume":"49","author":"W Coleman","year":"2023","unstructured":"Coleman W, Mariwalla K, Grimes P (2023) Updating the Fitzpatrick classification: the skin color and ethnicity scale. Dermatol Surg 49(8):725\u2013731. https:\/\/doi.org\/10.1097\/DSS.0000000000003862","journal-title":"Dermatol Surg"},{"issue":"3","key":"948_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2025.104333","volume":"55","author":"M Diallo","year":"2025","unstructured":"Diallo M, Salavessa L, Arveiler B, Delevoye C (2025) Albinism: from genetics to cell biology and physiopathology. Presse Med 55(3):104333. https:\/\/doi.org\/10.1016\/j.lpm.2025.104333","journal-title":"Presse Med"},{"key":"948_CR8","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1111\/pcmr.12982","volume":"34","author":"A Fern\u00e1ndez","year":"2021","unstructured":"Fern\u00e1ndez A, Hayashi M, Garrido G et al (2021) Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse. Pigment Cell Melanoma Res 34:786\u2013799. https:\/\/doi.org\/10.1111\/pcmr.12982","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"948_CR9","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1111\/pcmr.12929","volume":"34","author":"G Garrido","year":"2021","unstructured":"Garrido G, Fern\u00e1ndez A, Montoliu L (2021) HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes. Pigment Cell Melanoma Res 34(1):10\u201312. https:\/\/doi.org\/10.1111\/pcmr.12929","journal-title":"Pigment Cell Melanoma Res"},{"key":"948_CR10","first-page":"123","volume":"5","author":"RE Hall","year":"2022","unstructured":"Hall RE (2022) An expos\u00e9 of African albino colorism: Hall\u2019s Q Sort mathematical equation\u2211(A\u2009+\u2009B)\u00f7(1.1)\u2009=\u2009Q. Benin J Soc Work Community Dev 5:123\u2013132","journal-title":"Benin J Soc Work Community Dev"},{"issue":"706","key":"948_CR11","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1126\/science.28.706.49","volume":"28","author":"GH Hardy","year":"1908","unstructured":"Hardy GH (1908) Mendelian Proportions in a Mixed Population. Science 28(706):49\u201350. https:\/\/doi.org\/10.1126\/science.28.706.49","journal-title":"Science"},{"key":"948_CR12","doi-asserted-by":"publisher","unstructured":"Kaul H, Naz S, Ahmad HI, Saleem N, Shakil M, Firasat S, Majeed B, Sharif S, Rashid F, Etezaz A, Khan MU (2025) Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis. Biochem Genet 1\u201318. https:\/\/doi.org\/10.1007\/s10528-025-11282-6","DOI":"10.1007\/s10528-025-11282-6"},{"issue":"4565","key":"948_CR13","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1126\/science.6810464","volume":"217","author":"A K\u00f6rner","year":"1982","unstructured":"K\u00f6rner A, Pawelek J (1982) Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin. Science 217(4565):1163\u20131165. https:\/\/doi.org\/10.1126\/science.6810464","journal-title":"Science"},{"key":"948_CR14","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.64.10.14","volume":"64","author":"JGR Kromberg","year":"2023","unstructured":"Kromberg JGR, Flynn KA, Kerr RA (2023) Determining a worldwide prevalence of oculocutaneous albinism: a systematic review. Invest Ophthalmol Vis Sci 64:14. https:\/\/doi.org\/10.1167\/iovs.64.10.14","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"948_CR15","doi-asserted-by":"publisher","first-page":"877","DOI":"10.4102\/ajod.v11i0.877","volume":"11","author":"JGR Kromberg","year":"2022","unstructured":"Kromberg JGR, Kerr R (2022) Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues. Afr J Disabil 11:877. https:\/\/doi.org\/10.4102\/ajod.v11i0.877","journal-title":"Afr J Disabil"},{"key":"948_CR16","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1111\/pcmr.12688","volume":"31","author":"E Lasseaux","year":"2018","unstructured":"Lasseaux E, Plaisant C, Michaud V et al (2018) Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res 31:466\u2013474. https:\/\/doi.org\/10.1111\/pcmr.12688","journal-title":"Pigment Cell Melanoma Res"},{"issue":"2","key":"948_CR18","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.survophthal.2020.07.008","volume":"66","author":"S Liu","year":"2021","unstructured":"Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG (2021) Current and emerging treatments for albinism. Surv Ophthalmol 66(2):362\u2013377. https:\/\/doi.org\/10.1016\/j.survophthal.2020.07.008","journal-title":"Surv Ophthalmol"},{"issue":"2","key":"948_CR20","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/s00403-022-02436-7","volume":"315","author":"E Ma","year":"2023","unstructured":"Ma E, Zhou AE, Hoegler KM, Khachemoune A (2023) Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues. Arch Dermatol Res 315(2):107\u2013116. https:\/\/doi.org\/10.1007\/s00403-022-02436-7","journal-title":"Arch Dermatol Res"},{"issue":"5","key":"948_CR21","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.abd.2019.09.023","volume":"94","author":"CR Mar\u00e7on","year":"2019","unstructured":"Mar\u00e7on CR, Maia M (2019) Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol 94(5):503\u2013520. https:\/\/doi.org\/10.1016\/j.abd.2019.09.023","journal-title":"An Bras Dermatol"},{"issue":"2","key":"948_CR22","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/ajpa.20508","volume":"132","author":"AR Marrero","year":"2007","unstructured":"Marrero AR, Silva-Junior WA, Bravi CM, Hutz MH, Petzl-Erler ML, Ruiz-Linares A, Salzano FM, Bortolini MC (2007) Demographic and evolutionary trajectories of the Guarani and Kaingang natives of Brazil. Am J Phys Anthropol 132(2):301\u2013310. https:\/\/doi.org\/10.1002\/ajpa.20508","journal-title":"Am J Phys Anthropol"},{"issue":"46","key":"948_CR23","doi-asserted-by":"publisher","first-page":"e20230164","DOI":"10.1590\/1678-4685-GMB-2023-0164","volume":"18","author":"P Moura","year":"2023","unstructured":"Moura P, Cardoso-Dos-Santos AC, Schuler-Faccini L (2023) Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge. Genet Mol 18(46):e20230164. https:\/\/doi.org\/10.1590\/1678-4685-GMB-2023-0164","journal-title":"Genet Mol"},{"key":"948_CR25","unstructured":"Panara A (2023) Albinism in Tanzania: Negation, Persecution, Stereotypes. Working Paper Cultura, Sociedade e Mudan\u00e7a na \u00c1frica Subsariana. Mestrado em Estudos Africanos; University of Lisbon"},{"key":"948_CR26","doi-asserted-by":"publisher","unstructured":"Quintero P, Mar\u00e9chal Cl\u00e9mentine (2020) Popula\u00e7\u00f5es kaingang, processos de territorializa\u00e7\u00e3o e capitalismo colonial\/moderno no Alto Uruguai (1941\u20131977). Horizontes Antropol\u00f3gicos, n. 58. 155\u2013190. https:\/\/doi.org\/10.1590\/S0104-71832020000200006","DOI":"10.1590\/S0104-71832020000200006"},{"key":"948_CR28","doi-asserted-by":"publisher","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Sci 17(5):405\u2013423. https:\/\/doi.org\/10.1038\/gim.2015.30","DOI":"10.1038\/gim.2015.30"},{"issue":"2","key":"948_CR29","first-page":"110","volume":"33","author":"FM Salzano","year":"1961","unstructured":"Salzano FM (1961a) Studies on the Caingang Indians: I. Demography. Hum Biol 33(2):110\u2013130","journal-title":"Hum Biol"},{"key":"948_CR30","doi-asserted-by":"publisher","unstructured":"Salzano FM (1961b) Rare genetic conditions among the Caingang Indians. Ann Hum Genet. 1961;25:123\u2009\u2013\u200930. https:\/\/doi.org\/10.1111\/j.1469-1809.1961.tb01509.x","DOI":"10.1111\/j.1469-1809.1961.tb01509.x"},{"issue":"4","key":"948_CR32","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2025.109173","volume":"145","author":"L Sim\u00e3o Medeiros","year":"2025","unstructured":"Sim\u00e3o Medeiros L, Teixeira LF, Gomes A, Rivera I, Lorea CF, Farret L, Tirelli KM, Sebasti\u00e3o FM, Pasetto FB, de Souza CFM, de Oliveira Poswar F, Pinto RB, Marcano-Ruiz M, Sperb-Ludwig F, Vieira SM, Schuler-Faccini L, Schwartz IVD (2025) Clinical and genetic features of classic galactosemia in the south of Brazil. Mol Genet Metab 145(4):109173. https:\/\/doi.org\/10.1016\/j.ymgme.2025.109173","journal-title":"Mol Genet Metab"},{"key":"948_CR34","unstructured":"Terras ind\u00edgenas no Brasil Available in: https:\/\/terrasindigenas.org.br\/. Accessed in 15 Jan 2026"},{"key":"948_CR35","unstructured":"Thomas MG, Zippin J, Brooks BP (2023) Oculocutaneous Albinism and Ocular Albinism Overview. In: Adam, MP, Feldman, J, Mirzaa, GM (eds.). GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993\u20132025"},{"issue":"3","key":"948_CR36","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1038\/jid.2009.305","volume":"130","author":"A Wei","year":"2010","unstructured":"Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W (2010) A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. JID 130(3):716\u2013724. https:\/\/doi.org\/10.1038\/jid.2009.305","journal-title":"JID"},{"issue":"1969","key":"948_CR38","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1126\/science.164.3875.30","volume":"164","author":"CM Woolf","year":"1969","unstructured":"Woolf CM, Dukepoo FC (1969) Hopi Indians, inbreeding, and albinism. Science 164(1969):30\u201337. https:\/\/doi.org\/10.1126\/science.164.3875.30","journal-title":"Science"},{"issue":"1962","key":"948_CR39","first-page":"391","volume":"14","author":"CM Woolf","year":"1962","unstructured":"Woolf CM, Grant RB (1962) Albinism among the Hopi Indians in Arizona. Am J Hum Genet 14(1962):391\u2013400","journal-title":"Am J Hum Genet"},{"issue":"5","key":"948_CR40","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1111\/pcmr.12779","volume":"32","author":"Z Zhong","year":"2019","unstructured":"Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J (2019) Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. Pigment Cell Melanoma Res 32(5):672\u2013686. https:\/\/doi.org\/10.1111\/pcmr.12779","journal-title":"Pigment Cell Melanoma Res"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00948-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-026-00948-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-026-00948-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T19:02:07Z","timestamp":1792695727000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-026-00948-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,24]]},"references-count":32,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,10]]}},"alternative-id":["948"],"URL":"https:\/\/doi.org\/10.1007\/s12687-026-00948-x","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,24]]},"assertion":[{"value":"6 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"111"}}