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This Week in Nature: Oct 1, 2015

Two research groups reported final findings from the 1,000 Genome Project, which aims to catalog human genetic variation across populations, in Nature this week. In one paper, a team led by researchers from the Albert Einstein College of Medicine describes the completion and final phase of the project, which combined genome and exome sequencing and genotyping to identify genetic variants in 2,504 unrelated individuals from 26 populations across Asia, Europe, Africa and the Americas. Among the findings was that rare variants are often restricted to closely related populations, while common ones are shared across populations. In a related publication, a team from the Structural Variation group of the project analyzed eight major structural variation classes in the same individuals. The researchers identified clusters of structural variants spanning genes that have been implicated as potential risk factors for various disorders, as well as ones key to the maintenance of pregnancy.

Also in Nature, a Wellcome Trust Sanger Institute-led team presents a genetic association study of malaria, identifying genetic variants associated with resistance to the disease. Conducting a multi-center genome-wide association study of severe malaria, the researchers compared genetic variation among 5,633 African children with severe malaria and 5,919 without, replicating their results in an additional 14,000 individuals. They uncovered genetic variants at a locus associated with resistance to severe malaria located next to a cluster of genes responsible for creating the receptors the mosquitos use to transmit the disease to red blood cells. This finding opens new avenues for investigating why some people are resistant to severe malaria, the researchers say. GenomeWeb has more on this here.

And in Nature Biotechnology, a multi-institute group of researchers described the creation of a catalog of the mouse gut metagenome comprising about 2.6 million non-redundant genes by sequencing DNA from fecal samples of 184 mice. To ensure high microbiome diversity, they used mouse strains of diverse genetic backgrounds from different providers, kept in different housing labs, and fed either high-fat or low-fat diets.