Published November 11, 2020 | Version 1.0
Journal article Open

HGSVC Key Callset Resources

  • 1. University of Washington

Description

Variant callset resources for the Human Genome Structural Variant Consortium (HGSVC).

  1. SV INS/DEL: variants_freeze3_sv_insdel.tsv.gz
  2. SV INV: variants_freeze3inv_sv_inv.tsv.gz
  3. Indel: variants_freeze3_indel_insdel.tsv.gz
  4. SNV: variants_freeze3_snv_snv.tsv.gz

For each sample, Strand-seq-phased assemblies were generated with PGAS. Variants were called with PAV (https://github.com/EichlerLab/pav) and merged into a nonredundant callset. QC was applied to the callset removing records with little or no orthogonal support.

Citation: In progress

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