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Research Themes

Exploring mutagenesis using experimental and computational methods

 

  

 

 

 

 

 

 

 

 

 

Clinical studies and applications of mutagenesis

Clinical whole genome sequencing (WGS) analysis and interpretation 

genomeplots
“Whole cancer genomes of four breast cancer patients depicting all the mutations present in each of their cancer genomes. From the outermost circle heading inwards: Karyotypic ideogram outermost. Base substitutions next, plotted as rainfall plots (log10 intermutation distance on radial axis, dot colours: blue=C>A, black=C>G, red=C>T, grey=T>A, green=T>C, pink=T>G). Ring with short green lines = insertions, ring with short red lines = deletions. Major copy number allele (green = gain) ring, minor copy number allele ring (pink=loss), Central lines represent rearrangements (green= tandem duplications, pink=deletions, blue=inversions and gray=interchromosomal events. Top right hand panel displays the number of mutations contributing to each mutation signature extracted using NNMF in individual cancers. Middle right hand panel represents indels. Bottom right corner shows histogram of rearrangements present in this cancer. Bottom left corner shows all curated driver mutations, top and middle left panels show clinical and pathology data respectively. The four patients have different dominant biological abnormalities: from left to right: BRCA1-deficiency, mismatch repair deficiency, APOBEC-related mutagenesis and HER2-amplification.”