Extended Data Fig. 4: Overview of copy-number estimation for paralogous sequence variants (PSVs).
From: Protein-altering variants at copy number-variable regions influence diverse human phenotypes
This figure provides a graphical overview of the pipeline we used to estimate copy-numbers of PSVs—that is, SNPs and indels carried on one or more copies of a multi-copy segment—from WGS read alignments (Supplementary Note, Section 9). We then refined these estimates using haplotype-sharing information.
