MtDNA deletions/duplications tool

In collaboration with the Maria Falkenberg lab and several other labs, we have developed a new tool, MitoSAlt, for detecting structural alterations in mitochondrial DNA using high throughput sequencing. MitoSAlt is currently the only method that can discriminate between deletions and duplications in mtDNA using short read sequencing.

The paper is finally out in PLoS Genetics.

Congratulations to Swaraj, Xie, Jennifer and everyone else!

UV signature study

We have a new paper out where we dig deeper into the mutational signature of ultraviolet light, including longer contextual patterns that may be informative of mutation rate. Congratulations to Markus and his coauthors Kerryn and Martin.

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