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. Author manuscript; available in PMC: 2018 Jun 29.
Published in final edited form as: Gastroenterology. 2017 Jul 14;153(3):657–673.e1. doi: 10.1053/j.gastro.2017.07.007

Figure 2. Variants that Increase Risk for BE and EA and Genomic Alterations Frequently Detected in EAs.

Figure 2

A) Circos plot of the loci associated with BE or EA risk in GWASs and in post-GWASs studies, reference to the first report followed by reference to confirmatory reports is shown in brackets. B) Circos plot of genomic alterations frequently detected in EAs. From the center of the circos to the outer ring: a) Significant regions of copy number losses (blue) according to the Gistic analysis (a tool to identify somatic copy number alterations; Broad Institute, US) reported by 78,85,91 on their respective cohorts; b) Copy number gains (red) according to the criteria above; c) Most frequent recurrent gene hits by SVs reported by 78, fragile sites were excluded; d) Recurrent point mutations in driver genes according to Mutsig and MutsigCV (bioinformatic tools to identify driver mutations; Broad Institute, US) in >/= 10% of cases by 54,78,91. * Common Fragile Site Genes. For an extended annotation of the data shown, see Supplementary Table 2.