Anthropological genomics in the era of affordable and highthroughput technologies

I was invited to give a talk at American Association of Anthropological Genetics (AAAG).  The organizers of the symposium were Graciela Cabana and Lorena Havill.  I think, they did a great job of putting together a diverse group of researchers to discuss “Anthropological Genetics in the Genomic Era“.

If you are interested in my talk, here is the abstract:

The new genomic technologies, including next generation sequencing and array-based whole-genome approaches, introduced powerful and affordable ways to address the complex questions posed by anthropology. In addition, the technologies identified new forms of genomic variation, such as copy number variants (CNVs), (gains or losses in the genomic content), which have been shown to be widespread among healthy humans. Hence, I would like to outline some of the possibilities and pitfalls of utilizing these technologies in anthropological research. First, I will describe our efforts to describe the whole genome of a Korean individual using next generation sequencing (27.8x coverage), targeted bacterial artificial chromosome sequencing  and array comparative genomic hybridization (aCGH). I will contrast the power of different methodologies in describing
different classes of genomic variation and touch on the genomic impact of more than 3 million single nucleotide polymorphisms (SNPs), as well as thousands of structural variants, including CNVs. In the second part of this talk, I will describe methodologies and emerging trends in comparative studies of primate genomes. In particular, I will chart the steps that we took to design a species-specific array platform to study within species variation among rhesusmacaques. Using this platform, we have identified approximately 1,000 CNV regions among rhesus macaques and demonstrated that these CNV regions overlap with more than 300 genes, primarily related to neurogenesis and immunity. Such platforms will
soon be affordable by the anthropology community to address fundamental questions about human evolution, bringing with it new methodological, theoretical and ethical challenges.

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