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This Week in Nature: Apr 14, 2016

In this week's Nature Biotechnology, a team of researchers from industry and academia report on the discovery of a small number of people within a large-scale genomic analysis who remain healthy despite carrying genetic mutations linked to severe childhood diseases. The findings, which come as part of a pilot study for the ongoing Resilience Project, suggest that the link between genetics and disease may be more complicated than previously thought. The investigators analyzed sequencing or genotyping data for close to 900 genes from nearly 600,000 individuals, and found 13 individuals who were apparently healthy even though they carried mutations that cause one of eight Mendelian childhood disorders. The researchers say these people may hold clues about factors that can protect against highly penetrant disease-causing mutations and help in the development of new targeted therapies. GenomeWeb has more on this here.

And in Nature Microbiology, a group led by University of California, Berkeley, researchers present a new tree of life using newly available data. The researchers constructed their tree using new genomic data from more than 1,000 uncultivated and little-known organisms, along with published sequences, using a method that does not require growing or cultivating organisms in the lab. Their updated tree of life reveals the diversity of Bacteria compared with the other two domains of life, Archaea and Eukarya, and highlights major lineages currently underrepresented in biogeochemical models and branches that are likely important for evolutionary analyses. The Scan also has more on this here.

And finally, in Nature Genetics, researchers from the Broad Institute and South Africa's KwaZulu Natal Research Institute for TB and HIV publish the results of a study in which they analyzed whole-genome sequences from 498 strains of Mycobacterium tuberculosis to identify new resistance-conferring genotypes. They found that loss-of-function mutations in a specific gene confer resistance to second-line treatment, and predict genetic mutations that may lead to drug resistance. GenomeWeb also covers this here.