Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders
Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, O. Isaac Garcia-Salinas, Matthew D. C. Neville, Joseph Christopher, Isidro Cortés-Ciriano, Helen Firth, Aylwyn Scally, Matthew Hurles, Peter Campbell, Raheleh Rahbari
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsGenomics and Rare Diseases · Connective tissue disorders research · Hereditary Neurological Disorders
Correction to: Nature Communications 10.1038/s41467-025-64722-2, published online 3 November 2025
In the version of this article initially published, there was a typographical error in the second paragraph of the Discussion section, where in the text now reading “In addition, 66 of 145 (46%) pathogenic SVs identified in our study were balanced rearrangements,” 66 of 145 (46%) originally read “51 of 151 (34%).” In Fig. 2g, the gene label “SRRM2” was mistakenly placed to the right of the x-axis and is now realigned toward the center. In the first paragraph of the Results section, a related reference and associated discussion were missing. The text is now amended to include “Furthermore, 19 of the pathogenic dnSVs involving inversions were validated by an independent group [Pagnamenta, A. T. et al. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. Am. J. Hum. Genet. 10.1016/j.ajhg.2024.04.018 (2024)].” The changes are made in the HTML and PDF versions of the article.