Extended Data Fig. 1: From pseudo haplotypes to generating an augmented graph.
From: Structural variation in 1,019 diverse humans based on long-read sequencing
Variant calls within centromere regions are removed and centromere regions are masked by ‘Ns’ in the reference genome. Then, sets of non-overlapping variants are grouped and inserted into the reference genome to obtain “pseudo-haplotypes”. Finally, pseudo-haplotypes are added as new sequences, thereby augmenting the graph, using the minigraph tool.
