Genome-based multidisciplinary approaches to the reconstruction of human demographic history

In my doctoral dissertation I summarize the scientific work leading to three papers in peer-reviewed journal, two submitted manuscripts. These entire studies share a common focus on human evolutionary history, but each of them address different scientific questions by means of a different combination of molecular and statistical methods. Our cells contain a message from the past, written in their genomes; thus the study of genetic variation within and between populations can help us understand aspects of human demographic history over the past thousands of years, i.e. well beyond the time-limits of historical evidence. Recently, extensive human genome data are becoming available, both from genome wide SNP data, and from the rapidly-increasing number of complete genome sequences, offering novel means of reconstructing human population history with a detail that was, until very few years ago, unthinkable. This abundant, and ever-growing amount of genomic data is of enormous relevant for understanding how and why human are different. Paper I (Barbujani et al., 2013) represents a review of human genetic variation and their implications for human evolutionary inference Genetic data are indispensable to test hypothesis, generated in complementary discipline such as anthropology, linguistic and archaeology. Paper II (Tassi et al., submitted) and Paper III (Longobardi et al., submitted) provide examples of how it is possible to achieve a detailed picture of human history and evolution, taking advantage of archaeological and linguistic knowledge to interpret the genetic data. For many years, studies of human genetic diversity have been necessarily limited to modern populations, severely limiting our ability to investigate the detail of past processes. Conversely, today, thanks to the advent of methods for reliably typing ancient DNA, it has been possible to increase our power to reconstruct historical demographic processes, and to explicitly test evolutionary hypotheses. In Paper IV (Ghirotto et al., 2013) and Paper V (Tassi et al., 2013) we analyzed ancient Etruscans sample and, within the ABC framework, we explicitly compared several models, differing for demographic and genealogical histories, to shed light on the origin and evolution of the Etruscans.