{"title":"Correction to “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies”","authors":"","doi":"10.1002/jimd.70022","DOIUrl":null,"url":null,"abstract":"<p>I. R. Betzler, M. Hempel, U. Mütze, et al., “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies,” <i>Journal of Inherited Metabolic Disease</i> 47, no. 5 (2024): 945–970, https://doi.org/10.1002/jimd.12750.</p><p>It has come to our attention that our original article contained errors in the mapping of ClinGen's Gene-Disease Validity data to gene lists from genomic newborn screening studies. Specifically, Table 2 mistakenly included the genes <i>MAGT1</i>, <i>CACNA1C</i>, <i>GJA1</i>, <i>KCNJ5</i>, <i>NOTCH3</i>, and <i>RASA1</i>, which were assigned to phenotypes primarily listed in ClinGen rather than those considered in the gNBS panels.</p><p>These corrections do not alter the overall conclusions of our study but clarify the challenges involved in defining target diseases for gNBS. We sincerely appreciate the constructive feedback from our colleagues and apologize for this error. We remain committed to transparency and accuracy in genomic newborn screening research.</p>","PeriodicalId":16281,"journal":{"name":"Journal of Inherited Metabolic Disease","volume":"48 2","pages":""},"PeriodicalIF":3.8000,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jimd.70022","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Inherited Metabolic Disease","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jimd.70022","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
I. R. Betzler, M. Hempel, U. Mütze, et al., “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies,” Journal of Inherited Metabolic Disease 47, no. 5 (2024): 945–970, https://doi.org/10.1002/jimd.12750.
It has come to our attention that our original article contained errors in the mapping of ClinGen's Gene-Disease Validity data to gene lists from genomic newborn screening studies. Specifically, Table 2 mistakenly included the genes MAGT1, CACNA1C, GJA1, KCNJ5, NOTCH3, and RASA1, which were assigned to phenotypes primarily listed in ClinGen rather than those considered in the gNBS panels.
These corrections do not alter the overall conclusions of our study but clarify the challenges involved in defining target diseases for gNBS. We sincerely appreciate the constructive feedback from our colleagues and apologize for this error. We remain committed to transparency and accuracy in genomic newborn screening research.
I. R. Betzler， M. Hempel， U. m兹，等，“新生儿基因组筛选研究中基因和疾病选择的比较分析”，遗传代谢疾病杂志，第47期。5 (2024): 945-970, https://doi.org/10.1002/jimd.12750.It引起了我们的注意，我们的原始文章在ClinGen的基因-疾病有效性数据映射到基因组新生儿筛查研究的基因列表时存在错误。具体来说，表2错误地包括了基因MAGT1、CACNA1C、GJA1、KCNJ5、NOTCH3和RASA1，这些基因被分配到主要在ClinGen中列出的表型，而不是在gNBS面板中考虑的表型。这些修正并不改变我们研究的总体结论，但澄清了确定gNBS目标疾病所涉及的挑战。我们真诚地感谢同事们的建设性反馈，并为这个错误道歉。我们将继续致力于新生儿基因组筛查研究的透明度和准确性。
期刊介绍：
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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