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High-throughput network maps are used to automatically (or semi-automatically) reconstruct an ontology that recapitulates much of the Gene Ontology and finds additional terms and relations.
Tumors vary in their ratio of normal to cancerous cells and in their genomic copy number. Carter et al. describe an analytic method for inferring the purity and ploidy of a tumor sample, enabling longitudinal studies of subclonal mutations and tumor evolution.
Small sequencing machines no bigger than a laser printer have many potential applications in diagnostics and public health. Loman et al. compare the quality, throughput and cost of instruments from Illumina, Roche and Life Technologies.
Sites where RNA editing occurs can be found using RNA-Seq, but false positives confound the data analysis. Peng et al. describe algorithms for accurately calling editing events, and apply them to identify ~22,600 events, mostly A→G changes, in a human transcriptome.
Large-scale structural genomics and genome-wide association studies generate a wealth of data relevant to human disease. Wang et al. interpret these data in the context of a protein interaction network, showing that systematic analyses of the structural interfaces hit by mutations yield insights into pathogenesis.
