Extended Data Fig. 10: Targeted haplotyping accuracy based on Locityper.
From: Structural variation in 1,019 diverse humans based on long-read sequencing
Haplotyping accuracy, here explored in complex loci of the genome across 270 medically relevant loci, is calculated as sequence similarity between two predicted locus haplotypes and actual locus haplotypes, extracted from the whole genome assemblies for 1 sample from the HPRC and 8 samples from a recent multi-platform whole genome assembly study by the Human Genome Structural Variation Consortium (HGSVC)20. a) Comparison of haplotyping accuracy for high-coverage short-read3 and intermediate-coverage ONT based haplotypes, inferred using Locityper. b) Improvement in haplotyping accuracy (Locityper accuracy on ONT data minus accuracy on short-read data) across 270 loci. The inset shows 20 genes with the highest improvement in haplotyping accuracy.
