A framework to score the effects of structural variants in health and disease

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Figure 5.
Figure 5.

The CADD-SV web server can score custom SV sets, but it can also be used for direct lookup of prescored deletions, duplications, and insertions from gnomAD and ClinVar, as well as call-sets from Abel et al. (2020) and Beyter et al. (2021). For a given SV, the website provides the combined model scores as well as annotation values normalized to the range in the healthy gnomAD cohort (Z-score). This enables users to identify interesting variants from color-highlighted extreme feature values and not just by the combined CADD-SV score. Further, the website provides direct links for each SV to external resources like gnomAD, Ensembl, or the UCSC Genome Browser.

This Article

  1. Genome Res. 32: 766-777

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