Joanna Kaplanis | PhD Student

Kaplanis, Joanna

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.

Kaplanis, Joanna
Joanna's Timeline

MSc Biostatistics, Harvard Unversity


Research Assistant, Whitehead Institute


BA Applied Mathematics, Harvard University