Table 2 Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases.

From: Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

 

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%

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