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This Week in Nature: Dec 1, 2011

In a meta-analysis of genome-wide association studies on platelet count including 66,867 individuals of European ancestry, a team led by investigators at the German Research Center for Environmental Health "identified 68 genomic loci [that] reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation." In the Nature paper, the researchers add that "using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation," demonstrating, they add, "a new example of successful translation of GWAS to function."

Over in Nature Communications, the University of Leicester's Lev Solyakov and colleagues report their combination of "global phospho-proteomic analysis with kinome-wide reverse genetics to assess the importance of protein phosphorylation in Plasmodium falciparum asexual proliferation." In its analysis, the Leicester-led team defines potential anti-malarial drug targets within the P. falciparum kinome.

A team led by researchers at the University of Southern California Keck School of Medicine this week reports its use of whole-genome bisulfite sequencing to profile a primary human colorectal tumor and matched normal tissue at single base-pair resolution in Nature Genetics. "We propose that widespread DNA methylation changes in cancer are linked to silencing programs orchestrated by the three-dimensional organization of chromatin within the nucleus," the authors conclude.

Elsewhere in the journal, an international team led by investigators at the Institute of Cancer Research in Surrey, UK, identifies risk loci for multiple myeloma at 3p22.1 derived from a genome-wide association study of 1,675 individuals with multiple myeloma and 5,903 control subjects.

The Scan

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.

Researchers Retrace Key Mutations in Reassorted H1N1 Swine Flu Virus With Avian-Like Features

Mutations in the acidic polymerase-coding gene boost the pathogenicity and transmissibility of Eurasian avian-like H1N1 swine influenza viruses, a PNAS paper finds.

Genome Sequences Reveal Evolutionary History of South America's Canids

An analysis in PNAS of South American canid species' genomes offers a look at their evolutionary history, as well as their relationships and adaptations.

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.