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sv_paper_042020

supplementary data for abel et al paper

Supplementary File 1. Site frequency map for the B38 shareable callset in vcf and bedpe format.

Supplementary File 2. Site frequency map for the B37 shareable callset in vcf and bedpe format.

Supplementary File 3. HGSVC SV calls used in sensitivity analyses. HGSVC assembly-only vcfs annotated with status of validation by >=2 PacBio long reads (see Methods).

Supplementary File 4. DEL and DUP sensitivity scores for each gene based on the observed frequency of CNV in the combined dataset of 17,795 samples.