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Miles Parkes and colleagues report results of a large genome-wide association meta-analysis and replication study for Crohn's disease. They identify 30 new susceptibility loci for this inflammatory bowel disease and implicate several interesting candidate genes in disease pathogenesis.
Joris Veltman, Han Brunner and colleagues report results of a family based exome sequencing study of ten individuals with unexplained mental retardation. They identified and validated de novo mutations in nine genes, six of which are likely to be pathogenic based on functional criteria, suggesting an important role for de novo point mutations in the etiology of unexplained mental retardation.
Nona Sotoodehnia and colleagues report a meta-analysis of 14 genome-wide association studies for QRS interval, an electrocardiogram measurement of cardiac ventricular conduction. They identify 22 loci associated with QRS duration.
Genetic variants at the FTO gene are associated with obesity in humans. Now, Roger Cox and colleagues analyze mice globally overexpressing Fto and show that increased Fto expression leads to obesity in mice.
Jun Wang and colleagues report whole-genome resequencing of 17 wild and 14 cultivated soybean accessions. They characterize population structure, patterns of linkage disequilibrium and selection in soybeans.
Holger Prokisch and colleagues report whole-exome sequencing of an individual with severe complex I deficiency, followed by screening in an additional 120 cases. They identify mutations in ACAD9 as causal for complex I deficiency.
Guillaume Lettre and colleagues report fine-mapping at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectively explain a substantial fraction of the heritable variation in this trait.
George Daley and John Rinn and colleagues identify large intergenic non-coding RNAs that are upregulated during reprogramming of induced pluripotent stem cells, and they show a functional role for large intergenic non-coding RNA-RoR in induced pluripotent stem cell derivation.
Michael Weber and colleagues present profiles of DNA methylation during early development of the mouse embryonic lineage in vivo. They profile 10% of the mouse genome covering all known gene promoters. They show that DNA methylation is targeted to specific gene promoters and is required to maintain gene repression.
Kamal Chowdhury and colleagues show that the microRNA-212/132 family is necessary for mouse mammary gland development. microRNA-212 and microRNA-132 are required in the mammary stroma, not the epithelium.
Matthieu Reymond and colleagues show that natural genetic variants at the SRF3 locus underlie genetic incompatibilities between European and central Asian accessions of Arabidopsis.
Richard Houlston and colleagues report results of a genome-wide association study of Hodgkin's lymphoma. They identify three new susceptibility loci at 2p16 (REL), 8q24 and 10p14 (GATA3) and confirm a strong role for the HLA region in disease etiology.
Thomas Brutnell and colleagues report RNA-Seq analysis of the maize leaf transcriptome during stages of leaf development. They identify dynamic changes in gene expression during the progression of leaf development.
Mark Achtman and colleagues report the whole-genome sequencing of 11 Yersinia pestis isolates, the causative agent of the plague. Their phylogeographic analysis on a larger dataset of Y. pestis global isolates suggests historical routes of transmission.
Jun Wang and colleagues report the resequencing of six elite maize inbred lines. The authors identified over 1 million SNPs and 30,000 insertion or deletion polymorphisms in this agricultural crop.
Montserrat Garcia-Closas and colleagues report a genome-wide association study for bladder cancer. They identify three new susceptibility loci on chromosomes 22q13.1, 19q12 and 2q37.1.
Tatsuhiko Tsunoda and Hidewaki Nakagawa report the genome sequence of a Japanese male individual generated with high-throughput sequencing technology. Their analyses reveal a number of novel single nucleotide variants, insertions, deletions and other variants.
Bin Han and colleagues performed low-coverage sequencing of 517 rice landraces and constructed a high-density haplotype map of the rice genome. They have used this resource to carry out genome-wide association studies for 14 agronomic traits and identify 80 loci with strong association signals.
Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of similar effect size are likely to exist.