Anthropology: Current and Future Developments

Volume: 2

Genomics in Biological Anthropology: New Challenges, New Opportunities

Molecular methodologies are crucial to our understanding of human population diversity, as well as our evolutionary relationships with nonhuman primates. The completion of the Human Genome Project ...
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Human Genomic Projects: Setting the Stage for Genome-Scale Anthropological Studies

Pp. 3-24 (22)

Cristina Santos, Mafalda Raposo, Amanda Ramos and Manuela Lima


With the development of the Human Genome Project, a complete reference sequence of the human genome became available. As new sequencing platforms and bioinformatics tools were continuously developed, sequencing costs were reduced. The emergence of several genome projects was grounded in such developments, allowing the scrutinizing, at the genome level, of the present human genetic variation, the analysis of extinct species (such as the Neanderthal) as well as the study of non-human primates. A general characterization of the main genome projects with potential impact in the field of Biological Anthropology is performed in this chapter. Examples of studies which profited from the genomic data produced are also provided. As high resolution studies are becoming affordable and faster, anthropologists around the world are being challenged to benefit and exploit the data being generated from the several international large-scale genomic projects. If they are able to meet this challenge, traditional questions of anthropological importance can be addressed in a new and much more efficient way.


1000 Genomes, ENCODE, Genographic, GTEx, HapMap, Human genome, Human genome projects, Neanderthal genome, Non-human primates genome projects, Roadmap Epigenomics.


Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Barcelona, Spain.