Understanding human evolutionary history: a meeting report of the Swedish Royal Academy of Sciences symposium of modern human genetic variation

The story of anatomically modern humans has captivated the imagination of nearly everyone who has ever wondered about our past, our relationship with one another and with other species, and how our evolutionary history has shaped extant patterns of genetic variation and phenotypic diversity. To highlight recent progress and future avenues of research in human evolutionary history, the Swedish Royal Academy of Sciences recently convened a Symposium on Modern Human Genetic Variation, which featured 12 invited speakers. The two-day Symposium was open to the public, and the large audience it attracted underscores the intense interest of both scientists and the public-at-large in studies of human evolutionary history. Two striking themes permeated this Symposium. First, many of the talks discussed the use of next-generation sequencing data to delineate patterns of human genomic diversity. It is remarkable how transformative this technology has become in such a small amount of time. Second, it was clear that comprehensive insights into human evolutionary history requires interdisciplinary approaches, and the talks were noteworthy in the diversity of approaches and topics that were being pursued to further illuminate the complex interaction of evolutionary, cultural and demographic forces that have shaped the evolutionary trajectory of humans. Below, I summarize some of the major topics and insights that emerged over the course of this Symposium.Despite decades of research, the catalog of human variation remains incomplete because of the limited number of worldwide populations that have been studied, inability to obtain genome-scale sequencing data in large numbers of individuals, and difficulty in comprehensively accessing complex types of variation, such as copy number variants (CNVs). A better understanding of the full spectrum of human genomic diversity is critical for delineating our evolutionary past and the heritable basis of phenotypic variation and disease suscept