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. 2023 Dec 13;624(7992):602–610. doi: 10.1038/s41586-023-06842-7

Extended Data Fig. 2. Structural variation detection performance and genomic alignments for HG002 samples.

Extended Data Fig. 2

(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.