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This Week in Nature: Jun 6, 2014

In Nature this week, an international team led by researchers from Radboud University Medical Center report data suggesting that whole-genome sequencing can diagnose severe intellectual disability in newborns even when standard tests come back negative. The scientists performed genome-wide sequencing in 50 patients with severe intellectual disability and their unaffected parents. While previous genetic screens in these same patients failed to identify disease markers, the genome-wide analysis found 84 novel sequence variations and eight novel structural variations associated with severe intellectual disability. The results led to a diagnosis of 42 percent of patients studied. Clinical Sequencing News has more in this study here.

Meanwhile, in Nature Biotechnology, investigators from Institut Pasteur in Paris report on the use of the gene-editing technology CRISPR-Cas9 to alter the genome of the human malaria parasite Plasmodium falciparum, which has been difficult to manipulate with existing tools. They specifically disrupted chromosomal loci and generated marker-free, single-nucleotide substitutions with high efficiency. The team was also able to generate a strain of the protozoan resistant to a key malaria treatment.

The Scan

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.

Study Examines Relationship Between Cellular Metabolism, DNA Damage Repair

A new study in Molecular Systems Biology finds that an antioxidant enzyme shifts from mitochondria to the nucleus as part of the DNA damage response.

Stem Cell Systems Target Metastatic Melanoma in Mouse Model

Researchers in Science Translational Medicine describe a pair of stem cell systems aimed at boosting immune responses against metastatic melanoma in the brain.

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.