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. Author manuscript; available in PMC: 2019 Jan 11.
Published in final edited form as: Nature. 2018 Jul 11;559(7714):350–355. doi: 10.1038/s41586-018-0321-x

Figure 4. Novel loci associated with mCAs in cis due to clonal selection.

Figure 4

(a) MPL, (b) ATM, (c), TM2D3/TARSL2. In each locus, one or more inherited genetic variants predispose chromosomal mutations to create a proliferative advantage. Bottom: genomic modifications; top: association P-values (Fisher's exact test, n=120,664 individuals). Independent lead associated variants are labeled, and variants are colored according to linkage disequilibrium with lead variants (in shades of red, gold, or green; variants in grey are not in LD with lead variants). In panel (c), the differing arrow weights to CNN-LOH and loss events indicate that CNN-LOH is the more common scenario (both in the population and among carriers of the risk variant).