Not many people look at a beautiful rugged mountain landscape and think of genetics. Fortunately or unfortunately, I am one of them now. How did I get here? It all started with a meeting with my soon to-be advisor, Shamil Sunyaev, at Harvard Medical School. Other than telling me that he was Tatar and “culturally muslim,” he also drew me a picture and told me a story. The mutation rate in humans is too high he said—how do we survive? He drew a histogram and drew an arrow with a big capital U pointing at it. On this histogram of mutation burden per individual, the U (representing the per-genome rate of deleterious mutations) was referring to the fact that every generation a newborn human is estimated to receive ~70 new mutations that the parents did not have. While mutations provide a source of novelty, a large fraction of them can also be damaging for the individual and the species.
