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. 2020 Jun;6(3):a005306. doi: 10.1101/mcs.a005306

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© 2020 Koboldt et al.; Published by Cold Spring Harbor Laboratory Press

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Figure 2. — Genomic analysis of case RD190073. (A) Run of homozygosity (ROH) analysis using VarScan v2.3.4 reveals a large ROH region on Chromosome 13 overlapping the ATP7B gene, indicated by a red arrow. (B) Integrative Genomics Viewer (IGV) screenshot of proband genome sequence (top track) and transcriptome sequence (bottom track). Exons 6 and 7 are not expressed in the RNA (red arrows). (C) IGV screenshot of the c.1947-19T > A variant showing its proximity to the exon and zygosity (homozygous in the proband, heterozygous in both parents).