Mutation

We estimate for the first time the rate and spectrum of de novo mutations in mice using long-read sequencing, uncovering an important role of indels and transposable element insertions in generating new genetic variation.

We investigate the phenotypic consequences of mutation accumulation in a large pedigree population of mice, demonstrating that new mutations exert only weak effects.

We validate previous mouse genome mutation rates and demonstrate that variation in the mutation spectrum among mouse strains leads to differences in the distribution of fitness effects.

The first study on de novo structural mutations (SMs) using long-read sequencing data. Resuts in MA lines of two different strains of C. reinhardtii show that SMs occur at substantial rates. Major differences between the SM spectra can be largely attributed to differences in the spectra of active transposable elements.

A study of comparative mutability between Chlamydomonas reinhardtii and its closest known relative C. incerta, using WGS data from mutation accumulation lines maintained over nearly 1000 generations.

Using WGS data in mouse, we show a novel estimation of mutation rate in inbred lines, based on the observed genetic variation and the expected site frequency spectrum.