Person: Moorjani, Priya
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Moorjani
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Priya
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Moorjani, Priya
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Publication Genetic Study of Population Mixture and Its Role in Human History(2013-09-25) Moorjani, Priya; Reich, David Emil; Myers, Simon; Daly, Mark; Witzel, Michael; Sunyaev, ShamilMixture between populations is an evolutionary process that shapes genetic variation. Intermixing between groups of distinct ancestries creates mosaics of chromosomal segments inherited from multiple ancestral populations. Studying populations of mixed ancestry (admixed populations) is of special interest in population genetics as it not only provides insights into the history of admixed groups but also affords an opportunity to reconstruct the history of the ancestral populations, some of whom may no longer exist in unmixed form. Furthermore, it improves our understanding of the impact of population migrations and helps us discover links between genetic and phenotypic variation in structured populations. The majority of research on admixed populations has focused on African Americans and Latinos where the mixture is recent, having occurred within the past 500 years. In this dissertation, I describe several studies that I have led that expand the scope of admixed studies to West Eurasians and South Asians where the mixture is older, and data from ancestral groups is mostly unavailable. First, I introduce a novel method that studies admixture linkage disequilibrium (LD) to infer the time of mixture. I analyze genomewide data from 40 West Eurasian populations and show that all Southern European, Levantine and Jewish groups have inherited sub-Saharan African ancestry in the past 100 generations, likely reflecting events during the Roman Empire and subsequent Arab migrations. Next, I apply a range of methods to study the history of Siddi groups that harbor African, Indian and Portuguese ancestry, and to infer the history of Roma gypsies from Europe. Finally, I develop a novel approach that combines the insights of frequency and LD-based statistics to infer the underlying model of mixture. I apply this method to 73 South Asian groups and infer that major mixture occurred ~2,000-4,000 years ago. In a subset of populations, all the mixture occurred during this period, a time of major change in India marked by the de- urbanization of the Indus valley civilization and recolonization of the Gangetic plateau. Inferences from our analyses provide novel insights into the history of these populations as well as about the broad impact of human migrations.Publication Reconstructing Roma History from Genome-Wide Data(Public Library of Science, 2013) Moorjani, Priya; Patterson, Nick; Loh, Po-Ru; Lipson, Mark; Kisfali, Péter; Melegh, Bela I.; Bonin, Michael; Kádaši, Ľudevít; Rieß, Olaf; Berger, Bonnie; Reich, David; Melegh, BélaThe Roma people, living throughout Europe and West Asia, are a diverse population linked by the Romani language and culture. Previous linguistic and genetic studies have suggested that the Roma migrated into Europe from South Asia about 1,000–1,500 years ago. Genetic inferences about Roma history have mostly focused on the Y chromosome and mitochondrial DNA. To explore what additional information can be learned from genome-wide data, we analyzed data from six Roma groups that we genotyped at hundreds of thousands of single nucleotide polymorphisms (SNPs). We estimate that the Roma harbor about 80% West Eurasian ancestry–derived from a combination of European and South Asian sources–and that the date of admixture of South Asian and European ancestry was about 850 years before present. We provide evidence for Eastern Europe being a major source of European ancestry, and North-west India being a major source of the South Asian ancestry in the Roma. By computing allele sharing as a measure of linkage disequilibrium, we estimate that the migration of Roma out of the Indian subcontinent was accompanied by a severe founder event, which appears to have been followed by a major demographic expansion after the arrival in Europe.Publication Inferring Admixture Histories of Human Populations Using Linkage Disequilibrium(Genetics Society of America, 2013) Loh, Po-Ru; Lipson, Mark; Patterson, Nick; Moorjani, Priya; Pickrell, Joseph; Reich, David; Berger, BonnieLong-range migrations and the resulting admixtures between populations have been important forces shaping human genetic diversity. Most existing methods for detecting and reconstructing historical admixture events are based on allele frequency divergences or patterns of ancestry segments in chromosomes of admixed individuals. An emerging new approach harnesses the exponential decay of admixture-induced linkage disequilibrium (LD) as a function of genetic distance. Here, we comprehensively develop LD-based inference into a versatile tool for investigating admixture. We present a new weighted LD statistic that can be used to infer mixture proportions as well as dates with fewer constraints on reference populations than previous methods. We define an LD-based three-population test for admixture and identify scenarios in which it can detect admixture events that previous formal tests cannot. We further show that we can uncover phylogenetic relationships among populations by comparing weighted LD curves obtained using a suite of references. Finally, we describe several improvements to the computation and fitting of weighted LD curves that greatly increase the robustness and speed of the calculations. We implement all of these advances in a software package, ALDER, which we validate in simulations and apply to test for admixture among all populations from the Human Genome Diversity Project (HGDP), highlighting insights into the admixture history of Central African Pygmies, Sardinians, and Japanese.Publication Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture(Public Library of Science, 2013) Haber, Marc; Gauguier, Dominique; Youhanna, Sonia; Patterson, Nick; Moorjani, Priya; Botigué, Laura R.; Platt, Daniel E.; Matisoo-Smith, Elizabeth; Soria-Hernanz, David F.; Wells, R. Spencer; Bertranpetit, Jaume; Tyler-Smith, Chris; Comas, David; Zalloua, PierreThe Levant is a region in the Near East with an impressive record of continuous human existence and major cultural developments since the Paleolithic period. Genetic and archeological studies present solid evidence placing the Middle East and the Arabian Peninsula as the first stepping-stone outside Africa. There is, however, little understanding of demographic changes in the Middle East, particularly the Levant, after the first Out-of-Africa expansion and how the Levantine peoples relate genetically to each other and to their neighbors. In this study we analyze more than 500,000 genome-wide SNPs in 1,341 new samples from the Levant and compare them to samples from 48 populations worldwide. Our results show recent genetic stratifications in the Levant are driven by the religious affiliations of the populations within the region. Cultural changes within the last two millennia appear to have facilitated/maintained admixture between culturally similar populations from the Levant, Arabian Peninsula, and Africa. The same cultural changes seem to have resulted in genetic isolation of other groups by limiting admixture with culturally different neighboring populations. Consequently, Levant populations today fall into two main groups: one sharing more genetic characteristics with modern-day Europeans and Central Asians, and the other with closer genetic affinities to other Middle Easterners and Africans. Finally, we identify a putative Levantine ancestral component that diverged from other Middle Easterners ∼23,700–15,500 years ago during the last glacial period, and diverged from Europeans ∼15,900–9,100 years ago between the last glacial warming and the start of the Neolithic.