On Identifying Signatures of Positive Selection in Human Populations: A Dissertation

摘要: As sequencing technology continues to produce better quality genomes at decreasing costs, there has been a recent surge in the variety of data that we are now able analyze. This is particularly true with regards our understanding human genome – where last decade seen advances primate epigenomics, ancient hominid genomics, and proliferation polymorphism from multiple populations. In order utilize such however, it become critical develop increasingly sophisticated tools spanning both bioinformatics statistical inference. population genetics particularly, new approaches for analyzing constantly being developed unfortunately, often without proper model testing evaluation type-I type-II error. Because common Wright-Fisher assumptions underlying models generally violated natural populations, this critical. Thus, my dissertation two distinct but related themes: 1) evaluating methods inference genetics, 2) utilizing these analyze evolutionary history humans closest relatives. The resulting collection work not only provided important biological insights (including some first strong evidence selection on human-specific epigenetic modifications (Shulha, Crisci, Reshetov, Tushir et al. 2012, PLoS Bio), characterization genetic changes distinguishing modern Neanderthals (Crisci 2011, GBE)), also performance methodologies which will motivate future development improved al, review).