Joanna Kaplanis

PhD Student


This person is a member of Sanger Institute Alumni.

My PhD is focused on understanding variation in germline mutation rates and spectra.

Germline mutation is the ultimate source of all disease-causing variant and evolutionary adaptations. ;In the germline, genomic DNA is passed on from zygote to gamete through a cellular genealogy involving different cell types and tens or hundreds of genome replications. While the rate and spectra of germline mutation is relatively well-characterised at a population level, we have a limited understanding of how rates and spectra can differ between individuals. With the advent of exome and genome data sets of parent-offspring trios we have an unprecedented opportunity to characterise mutations at an individual level. During my PhD I aim to utilise these datasets to try and understand sources of germline mutation variation.

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