Extended Data Fig. 9: Illustration of the complex locus in chromosome 11. | Nature Biotechnology

Extended Data Fig. 9: Illustration of the complex locus in chromosome 11.

From: De novo and somatic structural variant discovery with SVision-pro

Extended Data Fig. 9: Illustration of the complex locus in chromosome 11.The alternative text for this image may have been generated using AI.

a, IGV screenshot on this complex locus in the ChineseQuartet. This complex locus comprised of two alleles, including one SSV deletion and one CSV deletion-insertion. Read that supported the SSV allele was marked in red while read that supported the CSV allele was marked in blue. b, The summarized pattern at this complex locus. c, Gepard Dotplots36 were used to show the differences between the SSV allele and CSV allele. d, SVision-pro correctly genotyped the two alleles, outputting the correct genotype of each allele. Sniffles2 and callset-merging strategies missed the CSV allele and incorrectly genotyped the SSV allele as homozygous in the child and father genome.

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