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Fig. 2 | BMC Cancer

Fig. 2

From: Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Fig. 2

Molecular analyses on various tissues. a Overview of the analyzed tissue samples using exome, panel or Sanger sequencing and the results for the respective genomic regions of interest. Both somatic variants in TSC2 and SIPA1LR were identified and confirmed. No evidence for complete LOH at the ARID1B and TSC2 loci was found in the AML samples. Also see Additional file 1: Figures S1, S4 and S5 for details including IGV snapshots and Sangers sequencing results. b Schematic 2 × 2 contingency table of the different possible hypotheses for the tumor formation with arguments supporting each of the four combinations; the color intensity encodes perceived likeliness. VAF, variant allele frequency; CR, copy ratio; *: this one read is likely an artefact, compare Additional file 1: Figure S5

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BMC Cancer

ISSN: 1471-2407

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