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Structural models of chromosomes in nuclei on background image of raw experimental data. Kalhor et al. describe advances in mapping chromosome contacts and representing the resulting data as a population of structural models (p 90). Credit: Ian M. Slaymaker, Reza Kalhor and Harianto Tjong (three-dimensional rendering), and Marina Corral.
The NIH's proposed initiatives in translational science deserve solid financial backing from legislators and vocal support from the biomedical community.
By devoting funding to whole-genome studies, such as epigenetic and copy-number variation in stem cells, research on new genomic technology, and standards for methodologies and data collection/sharing, CIRM can spur both basic and translational research.
In spite of its modest performance in clinical trials, Benlysta may offer effective relief against lupus. But physicians are still working to identify the right patients. Michael Eisenstein reports.
As R&D costs spiral for drug developers, disruptive approaches to clinical trial design and management are gaining traction. Get ready for electronic data capture, precompetitive data sharing, virtual trials and a variety of bold new paradigms.
A new computational approach gives us the best chance at understanding how genomes are arranged in three-dimensional space and what that may mean for their function.
An additional layer of RNA regulation in which RNAs encoded by genes and pseudogenes compete for microRNAs could offer new opportunities for oligonucleotide therapeutics.
Data filters separate true genetic variants in sequencing data from sequencing errors, but their effectiveness is difficult to assess. Reumers et al. use the genome sequences of monozygotic twins to evaluate the performance of filters individually and in combination, leading to a 290-fold reduction in error rate in calling single-nucleotide variants.
Over 90% of human whole-genome sequencing has been performed using instruments from two companies, Illumina and Complete Genomics. Lam et al. sequence the same DNA samples with both instruments and compare their performance for calling insertions, deletions and single-nucleotide variants.
Pigeonpea is an important protein source in many developing countries, but limited genetic resources have constrained its improvement. The draft genome sequence of pigeonpea, the first for a nonindustrial crop and for a grain legume, should facilitate molecular breeding efforts to improve yields for subsistence farmers.
Genome function is influenced by the three-dimensional organization of chromosomes. Kalhor et al. experimentally detect low-frequency intra- and interchromosomal interactions previously obscured by noise and use these data to model the genome architectures of populations of cells.
Rare transcripts remain enigmatic in part because they are difficult to detect robustly on a large scale. Mercer et al. show that targeted RNA sequencing after array capture can reach saturating depth at the targeted loci and reveal unprecedented levels of rare noncoding transcripts and previously unrecognized spliced variants from important loci such as p53 and HOX.
A catalog of genetic variation in a crop species facilitates marker-assisted breeding, gene mapping and analysis of elite traits. Xu et al. resequenced 40 cultivated and 10 wild rice accessions to >15 × coverage, yielding 6.5 million single-nucleotide polymorphisms and 808,000 small insertions and deletions.
To provide formal education and training required for PhDs to perform their complex, multidisciplinary job functions, traditional PhD curricula should be restructured to include mandatory professional development course work.