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Resequencing of genomic regions that have been implicated by linkage and/or association studies to harbor genetic susceptibility loci represents a necessary step to identify causal variants. Massively parallel sequencing (MPS) offers the possibility of SNP discovery and frequency determination among pooled DNA samples. The strategies of pooling DNA samples and pooling PCR amplicons generated from individual DNA samples were evaluated, and both were found to return accurate estimates of SNP frequencies across varying levels of sequence coverage.European Journal of Human Genetics (2009) 17, 383–386; doi:10.1038/ejhg.2008.182; published online 15 October 2008 [ABSTRACT FROM AUTHOR]

Sami of northern Scandinavia are genetic outliers among European populations and their origin has been difficult to determine. In order to study the genetic origin of the Swedish Sami, we have performed high-resolution typing of the class I HLA-A and -B loci and the class II DRB1, DQB1 and DQA1 loci in the northern and southern Swedish Sami. Several of the common class I alleles in Sami (B*0702, B*1501, B*4002 and A*0301) are found at high frequency in other European populations. However, a number of class I and class II alleles (B*4001, A*2402, DRB1*0901 and DRB1*1101) in the Swedish Sami are characteristic of Asian populations. Admixture analyses indicate that 87% of the Sami gene pool is of European origin and that the Asian contribution is 13%. Our HLA analyses indicate a higher proportion of Asian ancestry in the Sami than shown by previous genetic studies.European Journal of Human Genetics (2008) 16, 1341–1349; doi:10.1038/ejhg.2008.88; published online 14 May 2008 [ABSTRACT FROM AUTHOR]

The genetic origin of the Sami is enigmatic and contributions from Continental Europe, Eastern Europe and Asia have been proposed. To address the evolutionary history of northern and southern Swedish Sami, we have studied their mtDNA haplogroup frequencies and complete mtDNA genome sequences. While the majority of mtDNA diversity in the northern Swedish, Norwegian and Finnish Sami is accounted for by haplogroups V and U5b1b1, the southern Swedish Sami have other haplogroups and a frequency distribution similar to that of the Continental European population. Stratification of the southern Sami on the basis of occupation indicates that this is the result of recent admixture with the Swedish population. The divergence time for the Sami haplogroup V sequences is 7600 YBP (years before present), and for U5b1b1, 5500 YBP amongst Sami and 6600 YBP amongst Sami and Finns. This suggests an arrival in the region soon after the retreat of the glacial ice, either by way of Continental Europe and/or the Volga-Ural region. Haplogroup Z is found at low frequency in the Sami and Northern Asian populations but is virtually absent in Europe. Several conserved substitutions group the Sami Z lineages strongly with those from Finland and the Volga-Ural region of Russia, but distinguish them from Northeast Asian representatives. This suggests that some Sami lineages shared a common ancestor with lineages from the Volga-Ural region as recently as 2700 years ago, indicative of a more recent contribution of people from the Volga-Ural region to the Sami population.European Journal of Human Genetics (2007) 15, 115–120. doi:10.1038/sj.ejhg.5201712; published online 20 September 2006 [ABSTRACT FROM AUTHOR]

This article refers to the debate between proponents of mono- and polygenism. After clearly defining these two positions in reference to the distinction between mono- and polyphyletism, it presents the scientific consensus in favor of polygenism as the default model of speciation. Taking this into account, the remaining part of the article concentrates on the monogenetic model of human speciation. Approaching this topic from the Aristotelian–Thomistic perspective, it delineates the three main theological arguments and one more scientifically grounded contention in favor of monogenism and offers a critical evaluation of Kenneth Kemp's contemporary model of theological monogenism grounded in biological polygenism. While viable, consistent, and remaining in line with the most recent paleoanthropology and human genetics, it needs to be cleared of its voluntaristic and dualistic undertones and reformulated in a way that avoids its implicit assumption of a metaphysically dubious substantial change taking place at the last step of the origin of Homo sapiens. [ABSTRACT FROM AUTHOR]