Genetics: ‘1000 Genomes’ data in Press Briefing

The pilot phase of a project that seeks to catalogue human genetic variation explores the rich genetic diversity that exists between individuals.

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Genetics: ‘1000 Genomes’ data in Press Briefing

Fossils: An affront to African origins

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Genetics: ‘1000 Genomes’ data in Press Briefing (pp 1061-1073; N&V)

The pilot phase of a project that seeks to catalogue human genetic variation explores the rich genetic diversity that exists between individuals, and looks set to support the next phase of human genetic research. The publicly available data are revealed in this week’s Nature.

The three projects comprising this pilot phase form part of the 1000 Genomes Project, a private–public endeavour that seeks to sequence and compare the genomes of 2,500 people from several different regions of the globe. The pilot includes data from over 800 people, highlighting around 16 million DNA variations, many of which were previously unknown. Furthermore, the data set, which includes over 95% of the currently accessible variants found in any individual, suggests that each of us carries around 75 variants related to inherited disorders.

The three pilot projects were designed to develop and compare different strategies for high-throughput genome-wide sequencing, and they have already influenced the design of the full project and medical genetics studies. Importantly, the authors, who form the 1000 Genomes Consortium, also explain how the results will contribute to a much more detailed understanding of the role of inherited DNA variation in human history, evolution and disease.

In a related News Feature this week, Nature attempts a rough survey of the total number of human genome sequences in the works. Though far from comprehensive, the tally indicates that at least 2,700 human genomes will have been completed by the end of this month, and another 30,000 will be added by the end of 2011.

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Richard Durbin (Wellcome Trust Sanger Institute, Hinxton, UK)
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Lisa Brooks (National Human Genome Research Institute, Bethesda, USA)
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Rasmus Nielsen (University of California, Berkeley, CA, USA) N&V author
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This relates to another paper; “Diversity of Human Copy Number Variation and Multicopy Genes” DOI: 10.1126/science.1197005 in the Science Press Package; please contact [email protected] or +1 202 326 6440 for further information.

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Fossils: An affront to African origins (pp 1095-1098)

The discovery of several species of anthropoid primate from the late middle Eocene of Libya challenges the theory that higher primates originated in Africa. The findings are reported in this week’s Nature.

The origin of anthropoids — higher primates including monkeys, apes and humans — has long been a source of debate for palaeontologists. Fossils from the late Eocene of Egypt supported the origin of the clade in the Cretaceous of Africa, but discoveries in Asia challenge this. The discovery by Jean-Jacques Jaeger and colleagues of several previously unknown species of small, anthropoid primate from the late middle Eocene of central Libya suggests two possible scenarios: that the anthropoids diverged much earlier in Africa, or that this divergence occurred in Asia, with synchronous colonization of Africa along with rodents and other mammals.

The findings from Libya, dated to around 38–39 million years ago, represent four primate taxa whose small size (estimated to be 120–470 g for the adults) and low size variation supports the theory of an early divergence.

The authors suggest that further palaeontological explorations of middle Eocene locations in Africa and Asia will be needed to understand more fully this important but poorly documented period of primate evolutionary history.

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Jean-Jacques Jaeger (Université de Poitiers, France)
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Published: 28 Oct 2010

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