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Figure S1: An overview of the variants in signalling pathways and molecular processes known to be affected in SMZL, which were identified by whole exome.

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Presentation on theme: "Figure S1: An overview of the variants in signalling pathways and molecular processes known to be affected in SMZL, which were identified by whole exome."— Presentation transcript:

1 Figure S1: An overview of the variants in signalling pathways and molecular processes known to be affected in SMZL, which were identified by whole exome sequencing in the present study. KLF2 mutation is frequent in SMZL.

2 A B Figure S2: Summary of a combined analysis of the novel variants identified by whole exome or genome sequencing among the 4 published studies (Kiel et al, 2012,Martinez et al, 2013,Parry et al, 2013,Rossi et al, 2012). A) Common and unique variants identified among the 4 studies. B) Number of gene mutations overlapping among the 4 studies. In general, there is little overlap among the variants identified by these different studies.

3 Figure S3: Examples of KLF2 mutations identified by PCR and Sanger sequencing. Sequencing was performed in the reverse direction using the common sequence CS2 primer. Sequences were aligned to the reference KLF2 mRNA sequence (NM ) using SeqScape v2.5.

4 TP53 SMZL108 c.609C>G R158P TP53 SMZL097 c.591G>A P152L TNFAIP3
SMZL026 c.1243delCAAAA TNFAIP3 SMZL031 c.868delT Figure S4: Examples of substitution and deletion mutations identified by Fluidigm Access Array PCR and MiSeq sequencing. Aligned reads were transformed to a bam file and visualised using IGV software.


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