Correction to: European Journal of Human Genetics (2024) 32:998–1004 https://doi.org/10.1038/s41431-024-01637-4, published online 31 May 2024 In the original article, Tables 1 and 2 were swapped during initial production. The incorrectly assigned table order can be seen below: The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% The correct table order should have been: Table 1. The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. The original article has now been corrected.
Correction to: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes (European Journal of Human Genetics, (2024), 32, 8, (998-1004), 10.1038/s41431-024-01637-4)
Scala M.;Savarese M.;Pinelli M.;
2025-01-01
Abstract
Correction to: European Journal of Human Genetics (2024) 32:998–1004 https://doi.org/10.1038/s41431-024-01637-4, published online 31 May 2024 In the original article, Tables 1 and 2 were swapped during initial production. The incorrectly assigned table order can be seen below: The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% The correct table order should have been: Table 1. The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. The original article has now been corrected.
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