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This Week in Nature: Aug 18, 2016

In this week's Nature, members of the Exome Aggregation Consortium (ExAC) publish a large-scale analysis of the human exome, providing new insights into the genetic variation that may underlie human disease. The researchers sequenced the exomes of more than 60,000 individuals from a variety of backgrounds, including people with European, Asian, and African ancestries. They uncovered about 7.4 million genetic variants and analyzed the data to identify patterns of genetic variation worldwide. Meanwhile, in Nature Genetics, other ExAC participants analyzed rare copy number variation within the consortium's dataset. GenomeWeb has more on these studies here.

And in Nature Medicine, a team led by St. Jude Children's Research Hospital investigators report on the use of the genome-editing technology CRISPR/Cas9 to treat beta-hemoglobinopathies, a collection of hereditary blood disorders including sickle cell disease and beta-thalassemia. The researchers applied CRISPR/Cas9 to human blood progenitor cells to mutate a sequence found in the promoters of two genes associated with beta-hemoglobinopathies, which recreated a benign genetic condition that may alleviate the conditions. The work, they say, establishes proof of principle for a potential genome-editing-based approach for treating beta-hemoglobinopathies. GenomeWeb also covers this here.