Extended Data Fig. 2: Structural variation detection performance and genomic alignments for HG002 samples.
From: The landscape of genomic structural variation in Indigenous Australians
(a) Line plots show precision and recall of SV calls detected with cuteSV for HG002 samples sequenced with LSK110/R9.4.1 or LSK114/R10.4.1 ONT chemistry and subsampled to different coverages compared against HGSVCv4 reference calls for HG002 (taken as a ‘truth set’). (b) Genome browser views show comparison of short-read and long-read alignments to either the hg38 or chm13-T2T reference genomes at MUC1, an example of a repetitive medically relevant gene. Both datasets are from the HG002 reference sample. The gene contains a large tandem repeat region that is best resolved by alignment of long-reads to chm13-T2T.
